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1. Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma

Author: Pagès, Mélanie, Beccaria, Kevin, Boddaert, Nathalie, El Saffroy, Raphael, Besnard, Aurore, Castel, David, Fina, Frederic, Barets, Doriane, Barret, Emilie, Lacroix, Ludovic, Bielle, Franck, Andreiuolo, Felipe, Tauziède-Espariat, Arnault, Figarella-Branger, Dominique, Puget, Stéphanie, Grill, Jacques, Chretien, Fabrice, Varlet, Pascale, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Hôpital Paul Brousse, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse, Département de biochimie, Ecole Polytechnique Féminine ((EPF)), Ecole d'Ingénieurs, Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] (UMR 8203), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Laboratoire de Transfert d'Oncologie Biologique [Hôpital Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Service d'Anatomo-Cyto-Pathologie et de NeuroPathologie [Hôpital de la Timone - APHM] (ACPNP), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), Département de biologie et pathologie médicales [Gustave Roussy], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), Service de Neuropathologie [CHU Pitié Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur [Paris], Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université Paris Descartes - Paris 5 ( UPD5 ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Paul Brousse, Ecole Polytechnique Féminine ( (EPF) ), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] ( UMR 8203 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Gustave Roussy ( IGR ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital Nord [CHU - APHM], Service d'Anatomo-Cyto-Pathologie et de NeuroPathologie [Hôpital de la Timone - APHM] ( ACPNP ), Aix Marseille Université ( AMU ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Service de neuropathologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherches en Oncologie biologique et Oncopharmacologie ( CRO2 ), Aix Marseille Université ( AMU ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), figarella-branger, dominique, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, Proto-Oncogene Proteins B-raf, Adolescent, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, Histones, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.CAN] Life Sciences [q-bio]/Cancer, H3 K27M, Humans, Spinal Cord Neoplasms, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Child, neoplasms, Research Articles, ganglioglioma, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Brain Neoplasms, BRAF V600E, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, midline, Immunohistochemistry, Treatment Outcome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Child, Preschool, Mutation, Female, Neoplasm Grading, Follow-Up Studies
Abstract: International audience; Ganglioglioma (GG) is a grade I tumor characterized by alterations in the MAPK pathway, including BRAF V600E mutation. Recently, diffuse midline glioma with an H3 K27M mutation was added to the WHO 2016 classification as a new grade IV entity. As co-occurrence of H3 K27M and BRAF V600E mutations has been reported in midline tumors and anaplastic GG, we searched for BRAF V600E and H3 K27M mutations in a series of 54 paediatric midline grade I GG (midline GG) to determine the frequency of double mutations and its relevance for prognosis. Twenty-seven patients (50%) possessed the BRAF V600E mutation. The frequency of the co-occurrence of H3F3A/BRAF mutations at diagnosis was 9.3%. No H3 K27M mutation was detected in the absence of the BRAF V600E mutation. Double-immunostaining revealed that BRAF V600E and H3 K27M mutant proteins were present in both the glial and neuronal components. Immunopositivity for the BRAF V600E mutant protein correlated with BRAF mutation status as detected by massARRAY or digital droplet PCR. The median follow-up of patients with double mutation was 4 years. One patient died of progressive disease 8 years after diagnosis, whereas the four other patients were all alive with stable disease at the last clinical follow-up (at 9 months, 1 year and 7 years) without adjuvant therapy. We demonstrate in this first series of midline GGs that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. Despite the presence of H3 K27M mutations, these cases should not be graded and treated as grade IV tumors because they have a better spontaneous outcome than classic diffuse midline H3 K27M-mutant glioma. These data suggest that H3 K27M cannot be considered a specific hallmark of grade IV diffuse gliomas and highlight the importance of integrated histomolecular diagnosis in paediatric brain tumors.
Published: 2018

2. Associations of the Intellectual Disability Gene MYT1L with Helix–Loop–Helix Gene Expression, Hippocampus Volume and Hippocampus Activation During Memory Retrieval

Author: Christian P. Müller, Gunter Schumann, Roberto Toro, Susanne Erk, Stephanie H. Witt, Cathy Fernandes, Jean Christophe Poncer, Franziska Degenhardt, Andreas Meyer-Lindenberg, Deepak Srivastava, Barbara Ruggeri, A. Fernandes, Marie-Laure Paillère Martinot, Andreas Heinz, Lourdes Martinez Medina, Agnieszka Kepa, Henrik Walter, Sylvane Desrivières, Sabine Lévi, Jean-Luc Martinot, Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Institut Pasteur [Paris], Gènes, Synapses et Cognition, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut du Fer à Moulin, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Bonn, Universität Heidelberg [Heidelberg], Central Institute of Mental Health [Mannheim], Medical Faculty [Mannheim], Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Maison de Solenn [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Friedrich Alexander University [Erlangen-Nürnberg], This work was funded by Wellcome Trust grant reference 090532/Z/09/Z and MRC Hub grant G0900747 91070. This work received further support from the European Union-funded FP6 Integrated Project IMAGEN (reinforcement-related behavior in normal brain function and psychopathology, LSHM-CT- 2007-037286). S.D and G.S. are also supported in part by the NIH BD2K award, U54EB020403, the FP7 projects IMAGEMEND (602450, IMAging GEnetics for MENtal Disorders) and MATRICS (603016), the Innovative Medicine Initiative Project EU-AIMS (115300-2), a Medical Research Council Programme Grant ‘Developmental pathways into adolescent substance abuse’ (93558), the Swedish funding agency FORMAS, the Medical Research Council and the Wellcome Trust (Behavioural and Clinical Neuroscience Institute, University of Cambridge), the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London, the Bundesministeriumfür Bildung und Forschung (BMBF grants 01GS08152, 01EV0711, eMED SysAlc01ZX1311A, Forschungsnetze AERIAL and BipoLife) and the Deutsche Forschungsgemeinschaft (DFG grants FOR 1617, SFB 940 and SM 80/5-2)., European Project: 39513,IMAGEN, European Project: 602450,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,IMAGEMEND(2013), European Project: 603016,EC:FP7:HEALTH,FP7-HEALTH-2013-INNOVATION-1,MATRICS(2014), European Project: 115300,EC:FP7:SP1-JTI,IMI-JU-03-2010,EU-AIMS(2012), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Gènes, Synapses et Cognition (CNRS - UMR3571 ), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Universität Bonn = University of Bonn, Universität Heidelberg [Heidelberg] = Heidelberg University, University Hospital Mannheim | Universitätsmedizin Mannheim, Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Department of Genomics, Génétique humaine et Fonctions cognitives - Human Genetics and Cognitive Functions, Centre National de la Recherche Scientifique ( CNRS ) -Institut Pasteur [Paris], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), King's College, Department of Genomics, Life and Brain Center, Université de Bonn, Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Sorbonne Université, Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), IFR49, Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Service Hospitalier Frédéric Joliot ( SHFJ ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Université Paris-Sud - Paris 11 ( UP11 ), Université Paris Descartes - Paris 5 ( UPD5 ), Université Sorbonne Paris Cité ( USPC ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Institut für Chemie und Biochemie, Anorganische Chemie, Freie Universität Berlin, and MRC- SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London SE5 8AF, UK
Subjects: Adult, Inhibitor of Differentiation Protein 1, Male, 0301 basic medicine, Neurogenesis, [SDV]Life Sciences [q-bio], Gene Expression, Hippocampus, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Memory, Gene expression, Journal Article, Basic Helix-Loop-Helix Transcription Factors, Humans, Transcription factor, ComputingMilieux_MISCELLANEOUS, Genetic Association Studies, Pharmacology, Gene knockdown, [ SDV ] Life Sciences [q-bio], Long-term potentiation, Organ Size, TCF4, Magnetic Resonance Imaging, Neural stem cell, Neoplasm Proteins, Psychiatry and Mental health, HEK293 Cells, 030104 developmental biology, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Gene Knockdown Techniques, Female, Inhibitor of Differentiation Proteins, Neuroscience, 030217 neurology & neurosurgery, Transcription Factors
Abstract: The fundamental role of the brain-specific myelin transcription factor 1-like (MYT1L) gene in cases of intellectual disability and in the aetiology of neurodevelopmental disorders is increasingly recognised. Yet, its function remains under-investigated. Here, we identify a network of helix-loop-helix (HLH) transcriptional regulators controlled by MYT1L, as indicated by our analyses in human neural stem cells and in the human brain. Using cell-based knockdown approaches and microarray analyses we found that (i) MYT1L is required for neuronal differentiation and identified ID1, a HLH inhibitor of premature neurogenesis, as a target. (2) While MYT1L prevented expression of ID1, it induced expression of a large number of terminal differentiation genes. (3) Consistently, expression of MYT1L in the human brain coincided with neuronal maturation and inversely correlated with that of ID1 and ID3 throughout the lifespan. (4) Genetic polymorphisms that reduced expression of MYT1L in the hippocampus resulted in increased expression of ID1 and ID3, decreased levels of the proneural basic HLH (bHLH) transcriptional regulators TCF4 and NEUROD6 and decreased expression of genes involved in long-term potentiation and synaptic transmission, cancer and neurodegeneration. Furthermore, our neuroimaging analyses indicated that MYT1L expression associated with hippocampal volume and activation during episodic memory recall, as measured by blood-oxygen-level dependent (BOLD) signals. Overall, our findings suggest that MYT1L influences memory-related processes by controlling a neuronal proliferation/differentiation switch of ID-bHLH factors.Neuropsychopharmacology accepted article preview online, 04 May 2017. doi:10.1038/npp.2017.91.
Published: 2017

3. 286. Dopamine Transporter and Reward Anticipation in Psychiatric Patients: A Positron Emission Tomography and Functional Magnetic Resonance Imaging Study

Author: Manon Dubol, Anca-Larisa Sandu, Claire Leroy, Christian Trichard, Mehdi Rahim, Eric Artiges, Jean-Luc Martinot, Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Imagerie Moléculaire In Vivo ( IMIV - U1023 ), Service Hospitalier Frédéric Joliot ( SHFJ ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service NEUROSPIN ( NEUROSPIN ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Modelling brain structure, function and variability based on high-field MRI data ( PARIETAL ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ), Adolescent psychopathology and Medicine, CHU Cochin [AP-HP], Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Imagerie Moléculaire in Vivo (IMIV - U1023 - ERL9218), Service Hospitalier Frédéric Joliot (SHFJ), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service NEUROSPIN (NEUROSPIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France
Subjects: 0303 health sciences, medicine.medical_specialty, biology, medicine.diagnostic_test, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, business.industry, [ SDV.MHEP.PSM ] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Multimodal neuroimaging, Anticipation, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Positron emission tomography, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, medicine, biology.protein, Psychiatry, business, Functional magnetic resonance imaging, 030217 neurology & neurosurgery, Biological Psychiatry, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Dopamine transporter
Abstract: International audience
Published: 2017

4. Genetic and Environmental Influences on the Visual Word Form and Fusiform Face Areas

Author: Stanislas Dehaene, Ghislaine Dehaene-Lambertz, Fabien Fauchereau, Thomas Bourgeron, Eric Artiges, Cyril Poupon, Denis Le Bihan, Philippe Pinel, Christophe Lalanne, Neuroimagerie cognitive - Psychologie cognitive expérimentale (UNICOG-U992), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Saclay (COmUE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Psychologie cognitive expérimentale, Collège de France (CdF (institution)), Recherche Clinique ville-hôpital, Méthodologies et Société (REMES), Université Paris Diderot - Paris 7 (UPD7), Trouble du comportement alimentaire de l'adolescent, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Université Paris-Sud - Paris 11 (UP11), Gènes, Synapses et Cognition (CNRS - UMR3571 ), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Fondation FondaMental [Créteil], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), This work was supported by Institut National de la Santé et de la Recherche Médicale (INSERM), Commissariat à l'Energie Atomique (CEA) and the James S. McDonnell Foundation., Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Collège de France - Chaire Psychologie cognitive expérimentale, Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroimagerie cognitive ( UNICOG-U992 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris-Sud - Paris 11 ( UP11 ), Collège de France ( CDF ), Collège de France ( CdF ), Recherche Clinique ville-hôpital, Méthodologies et Société ( REMES ), Université Paris Diderot - Paris 7 ( UPD7 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Université Paris-Sud - Paris 11 ( UP11 ), Gènes, Synapses et Cognition, Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Génétique humaine et Fonctions cognitives - Human Genetics and Cognitive Functions, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Neuroimagerie cognitive (UNICOG-U992), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Collège de France (CDF), Collège de France (CdF), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Institut Pasteur [Paris], and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: Male, MESH : Oxygen, MESH : Brain Mapping, [ SDV.MHEP.PSM ] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV]Life Sciences [q-bio], Statistics as Topic, MESH : Statistics as Topic, temporal, MESH : Photic Stimulation, Functional Laterality, MESH: Magnetic Resonance Imaging, [SCCO]Cognitive science, 0302 clinical medicine, Face perception, Stress (linguistics), Image Processing, Computer-Assisted, Twins, Dizygotic, Visual word form area, 10. No inequality, MESH: Brain Mapping, Language, Brain Mapping, medicine.diagnostic_test, 05 social sciences, MESH: Gene-Environment Interaction, MESH : Adult, Magnetic Resonance Imaging, MESH: Image Processing, Computer-Assisted, Temporal Lobe, MESH : Twins, Monozygotic, MESH: Photic Stimulation, Pattern Recognition, Visual, MESH: Young Adult, MESH: Language, Visual Perception, [ SCCO ] Cognitive science, MESH: Twins, Monozygotic, Psychology, MESH : Visual Perception, MESH : Image Processing, Computer-Assisted, MESH: Oxygen, VWFA, Cognitive psychology, Adult, MESH : Twins, Dizygotic, MESH : Male, Cognitive Neuroscience, MESH : Young Adult, MESH: Pattern Recognition, Visual, 050105 experimental psychology, Lateralization of brain function, Temporal lobe, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, MESH : Language, reading, MESH : Magnetic Resonance Imaging, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, medicine, Humans, MESH: Temporal Lobe, 0501 psychology and cognitive sciences, MESH: Functional Laterality, MESH : Functional Laterality, MESH : Pattern Recognition, Visual, MESH : Temporal Lobe, MESH: Statistics as Topic, MESH: Humans, [ SDV ] Life Sciences [q-bio], MESH: Visual Perception, MESH: Twins, Dizygotic, MESH : Humans, MESH: Adult, Twins, Monozygotic, Fusiform face area, MESH: Male, MESH : Gene-Environment Interaction, Oxygen, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Gene-Environment Interaction, genetic, FFA, Functional magnetic resonance imaging, Photic Stimulation, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Spoken language
Abstract: International audience; Two areas of the occipitotemporal cortex show a remarkable hemispheric lateralization: written words activate the visual word form area (VWFA) in the left fusiform gyrus and faces activate a symmetrical site in the right hemisphere, the fusiform face area (FFA). While the lateralization of the VWFA fits with the leftward asymmetry of the speech processing network, origin of the rightward asymmetry for faces is still unclear. Using fMRI data from 64 subjects (including 16 monozygotic (MZ) and 13 dizygotic (DZ) twin pairs), we investigated how activations evoked by written words, faces, and spoken language are co-lateralized in the temporal lobe, and whether this organization reflects genetic factors or individual reading expertise. We found that the lateralization of the left superior temporal activation for spoken language correlates with the lateralization of occipitotemporal activations for both written words and faces. Behavioral reading scores also modulate the responses to words and faces. Estimation of genetic and environmental contributions shows that activations of the VWFA, the occipital face area, and the temporal speech areas are partially under genetic control whereas activation of the FFA is primarily influenced by individual experience. Our results stress the importance of both genetic factors and acquired expertise in the occipitotemporal organization.
Published: 2014

5. Brain voice processing with bilateral cochlear implants: a positron emission tomography study

Author: Evelyne Ferrary, Yves Samson, Isabelle Mosnier, Emmanuèle Ambert-Dahan, Jean-Luc Martinot, Didier Bouccara, Arnaud Coez, Olivier Sterkers, Eric Bizaguet, Monica Zilbovicius, Equipe Perception et cognition musicales, Sciences et Technologies de la Musique et du Son (STMS), Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Réhabilitation Chirurgicale mini-Invasive et Robotisée de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'oto-rhino-laryngologie, Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut Claude Bernard - Physiologie et Pathologie ((IFR_2)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sciences et Technologies de la Musique et du Son ( STMS ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IRCAM-Centre National de la Recherche Scientifique ( CNRS ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IRCAM-Centre National de la Recherche Scientifique ( CNRS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service ORL, CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Beaujon, Institut Claude Bernard - Physiologie et Pathologie, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 ( SCALab ), Université de Lille-Centre National de la Recherche Scientifique ( CNRS ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière ( NEMESIS-CRICM ), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Male, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.medical_treatment, [ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processing, Sound perception, Audiology, Monaural, MESH : Voice, [ INFO.INFO-CV ] Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], MESH: Cochlear Implants, MESH: Auditory Perceptual Disorders, 0302 clinical medicine, Hearing, Cochlear implant, [ INFO.INFO-TI ] Computer Science [cs]/Image Processing, MESH : Female, 030223 otorhinolaryngology, [ SDV.IB.IMA ] Life Sciences [q-bio]/Bioengineering/Imaging, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, MESH: Cerebrovascular Circulation, General Medicine, MESH : Adult, Cochlear Implantation, Temporal Lobe, MESH: Positron-Emission Tomography, MESH : Auditory Perceptual Disorders, MESH: Voice, MESH : Hearing Loss, Bilateral, Cerebrovascular Circulation, [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Speech Perception, Female, MESH : Speech Perception, MESH : Cochlear Implantation, MESH : Hearing, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, Adult, Sound localization, Auditory perception, medicine.medical_specialty, MESH : Male, MESH: Acoustic Stimulation, Sensory system, Hearing Loss, Bilateral, 03 medical and health sciences, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, otorhinolaryngologic diseases, medicine, Humans, MESH: Temporal Lobe, MESH: Hearing, MESH : Temporal Lobe, MESH: Humans, business.industry, Auditory Perceptual Disorders, MESH : Humans, MESH : Positron-Emission Tomography, [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], MESH: Adult, MESH : Acoustic Stimulation, MESH: Speech Perception, MESH: Hearing Loss, Bilateral, MESH: Male, Cochlear Implants, Acoustic Stimulation, MESH: Cochlear Implantation, Otorhinolaryngology, Positron-Emission Tomography, Voice, MESH : Cochlear Implants, MESH : Cerebrovascular Circulation, sense organs, Implant, business, MESH: Female, Binaural recording, 030217 neurology & neurosurgery
Abstract: International audience; Most cochlear implantations are unilateral. To explore the benefits of a binaural cochlear implant, we used water-labelled oxygen-15 positron emission tomography. Relative cerebral blood flow was measured in a binaural implant group (n = 11), while the subjects were passively listening to human voice sounds, environmental sounds non-voice or silence. Binaural auditory stimulation in the cochlear implant group bilaterally activated the temporal voice areas, whereas monaural cochlear implant stimulation only activated the left temporal voice area. Direct comparison of the binaural and the monaural cochlear implant stimulation condition revealed an additional right temporal activation during voice processing in the binaural condition and the activation of a right fronto-parietal cortical network during sound processing that has been implicated in attention. These findings provide evidence that a bilateral cochlear implant stimulation enhanced the spectral cues associated with sound perception and improved brain processing of voice stimuli in the right temporal region when compared to a monaural cochlear implant stimulation. Moreover, the recruitment of sensory attention resources in a right fronto-parietal network allowed patients with bilateral cochlear implant stimulation to enhance their sound discrimination, whereas the same patients with only one cochlear implant stimulation had more auditory perception difficulties.
Published: 2013

6. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex

Author: Derek W. Morris, Carles Soriano-Mas, Tomáš Paus, Henrik Walter, Dick J. Veltman, Yuqi Cheng, Benjamin S. Aribisala, Anna Cattrell, Hilleke E. Hulshoff Pol, Vatche G. Baboyan, Simon E. Fisher, Michael N. Smolka, Saskia P. Hagenaars, Sarah Jurk, Roberto Roiz-Santiañez, Nicholas G. Martin, Lars T. Westlye, Odile A. van den Heuvel, Lucija Abramovic, Jan Egil Nordvik, Guillén Fernández, Jürgen Gallinat, Je Yeon Yun, Benson Mwangi, Ignacio Martínez-Zalacaín, Bernd Kraemer, Gareth J. Barker, José M. Menchón, Marie-Laure Paillère Martinot, Zhen Wang, Jan K. Buitelaar, Jean-Luc Martinot, Herve Lemaitre, Aiden Corvin, Henry Brodaty, Thomas Wolfers, Silvia Brem, Christine Lochner, Derrek P. Hibar, Susanne Walitza, Susana Muñoz Maniega, Premika S.W. Boedhoe, Nathalie Tzourio-Mazoyer, Uli Bromberg, Sonja M C de Zwarte, Dan J. Stein, Mark E. Bastin, Clyde Francks, Tobias U. Hauser, Sinead Kelly, Hugh Garavan, Omar Mothersill, Gary Donohoe, Neda Jahanshad, Greig I. de Zubicaray, Yoshinari Abe, Roel A. Ophoff, Christian Büchel, Esther Walton, Pieter J. Hoekstra, Nils Opel, Gunter Schumann, Jian Xu, Dara M. Cannon, Elena Shumskaya, Ingrid Agartz, Bernhard T. Baune, A. Marten H. Onnink, Tomohiro Nakao, Rosa Ayesa-Arriola, David Mataix-Cols, Sylvane Desrivières, Klaus-Peter Lesch, Paul Pauli, Wei Wen, Nora C. Vetter, Martine Hoogman, Ganesan Venkatasubramanian, Miguel E. Rentería, Ole A. Andreassen, Penny A. Gowland, Ian J. Deary, Patricia J. Conrod, Nicola J. Armstrong, Masaki Fukunaga, Vince D. Calhoun, Volker Arolt, Dimitri Papadopoulos Orfanos, Benedicto Crespo-Facorro, Lachlan T. Strike, Natalie A. Royle, Joanna M. Wardlaw, Sarah E. Medland, Annette Conzelmann, Andrea Gonzalez Suarez, Arun L.W. Bokde, Ryota Hashimoto, Robert Whelan, Michelle Luciano, Pascual Sánchez-Juan, Neeltje E.M. van Haren, Hao Hu, Luise Poustka, Jun Soo Kwon, Hans J. Grabe, Andreas Heinz, Katharina Wittfeld, Michael Gill, Erik G. Jönsson, Frauke Nees, Perminder S. Sachdev, Oliver Gruber, David C. Glahn, Chaim Huyser, Anushree Bose, Herta Flor, Janardhan Y. C. Reddy, Bernd Ittermann, John Blangero, Dennis van der Meer, Andre F. Marquand, Xiufeng Xu, Tulio Guadalupe, Dominik Grotegerd, Jessica A. Turner, Annerine Roos, Tobias Banaschewski, Theo G.M. vanErp, Jean-Paul Fouche, Paul M. Thompson, Alejandro Arias-Vasquez, Christopher D. Whelan, Maria del C. Valdés Hernández, Eric Artiges, Janardhanan C. Narayanaswaamy, Thomas Espeseth, Bernard Mazoyer, Katie L. McMahon, Erlend S. Dørum, Samantha J. Brooks, Samuel R. Mathias, Vincent Frouin, Fleur M. Howells, Barbara Franke, Colm McDonald, Jingjing Zhao, Daniella Vuletic, Nhat Trung Doan, Harald Kugel, Lianne Schmaal, Marcel P. Zwiers, Fabrice Crivello, Anne Uhlmann, Karen A. Mather, René S. Kahn, Roberto Toro, Stefan Ehrlich, Udo Dannlowski, Jair C. Soares, Takashi Nakamae, Margaret J. Wright, RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie, Psychiatry, Anatomy and neurosciences, Amsterdam Neuroscience - Brain Imaging, Child Psychiatry, Other departments, ANS - Complex Trait Genetics, International Max Planck Research School for Language Sciences (IMPRS ), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Language and Genetics Department [Nijmegen], Yale University [New Haven], Department of Psychiatry and Human Behavior, University of California [Irvine] (UCI), University of California-University of California, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], Department of Psychiatry, Graduate School of Medical Science Kyoto Prefectural University of Medicine Kyoto Japan, University Medical Center [Utrecht], KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], University of Oslo (UiO), Department of Human Genetics, Radboud University Medical Center [Nijmegen], Department of Psychiatry, Donders Centre for Neuroscience, Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen], University of Edinburgh, Lagos State University (LASU), Heriot-Watt University [Edinburgh] (HWU), Mental Health Sciences Unit, University College of London [London] (UCL), Adolescent psychopathology and Medicine, CHU Cochin [AP-HP], Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Hospital Sant Joan de Déu [Barcelona], Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), University of Southern California (USC), Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg], Centre for Neuroimaging Sciences, Institute of Psychiatry, King‘s College London, University of Adelaide, The University of Texas Health Science Center at Houston (UTHealth), Texas Biomedical Research Institute [San Antonio, Texas], Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, VU University Medical Center [Amsterdam], National Institute of Mental Health and Neurosciences [Bagalore, India], Hospital of the University of Pennsylvania, Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Dementia Collaborative Research Centre, University of New South Wales [Sydney] (UNSW), Centre for Healthy Brain Ageing, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Donders Center for Cognitive Neuroimaging, Donders Centre for Cognitive Neuroimaging, Radboud university [Nijmegen]-Radboud university [Nijmegen], The Mind Research Network, Department of Electrical and Computer Engineering [Albuquerque] (ECE Department), The University of New Mexico [Albuquerque], Human Genetics Branch, National Institutes of Health [Bethesda] (NIH)-National Institute of Mental Health (NIMH), Institute of Psychiatry, Psychology & Neuroscience, King's College London, Center for disease control, China (Chinese CDC), Center for Disease Control, China, Department of Psychology (Biological Psychology, Clinical Psychology, and Psychotherapy), University of Würzburg, Germany, Tübingen, Würzburg, Germany, Neuropsychiatric Genetics Research Group, Trinity College Dublin, Trinity College Dublin-St. James's Hospital, Groupe d'imagerie neurofonctionnelle (GIN), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), School of Psychology, University of Queensland, University of Queensland [Brisbane], MetaGenoPolis, Institut National de la Recherche Agronomique (INRA), Department of Psychology [Oslo], Faculty of Social Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), sans affiliation, Universität Mannheim [Mannheim], Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Division of Cerebral Integration National Institute for Physiological Sciences Okazaki Japan, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, University of Calgary, Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), Department of Psychiatry and Psychotherapy, HELIOS Klinikum Stralsund Hanseatic-Greifswald University Hospital, Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University [Osaka], University Clinic for Child and Adolescent Psychiatry (UCCAP), University of Zürich [Zürich] (UZH), University Medical Center Groningen [Groningen] (UMCG), Department of Medicine, Clinical Pharmacology Unit, Karolinska University Hospital [Stockholm], Brain Centre Rudolf Magnus [Utrecht], MetaCase [Jyväskylä], Center for Translational Research in Systems Neuroscience and Psychiatry, Department of Psychiatry and Psychotherapy, University Medical Center, Goettingen 37075, Germany, Department of Psychiatry & Behavioral Science Seoul National University College of Medicine Seoul Republic of Korea, Université de Cergy Pontoise (UCP), Université Paris-Seine, Institute of Human Genetics, Rheinische Friedrich-Wilhelms-Universität Bonn, Medstar Research Institute, Neuroimagerie en psychiatrie (U1000), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, Australia, Department of Life Sciences, Imperial College London, Centre for Advanced Imaging, Queensland Institute of Medical Research, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Universitat de Barcelona (UB), National University of Ireland [Galway] (NUI Galway), Climate Change Unit [Ispra], JRC Institute for Environment and Sustainability (IES), European Commission - Joint Research Centre [Ispra] (JRC)-European Commission - Joint Research Centre [Ispra] (JRC), Sunnaas Rehabilitation Hospital HT Nesodden Norway, University Medical Center [Utrecht]-Brain Center Rudolf Magnus, McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University-McGill University, Texas A&M University [College Station], QIMR Berghofer Medical Research Institute, Universiteit van Amsterdam (UvA), Centre for Healthy Brain Ageing [Sydney], The University of Sydney, CIBER de Enfermedades Neurodegenerativas (CIBERNED), Göttingen Zentrum Geowissenschaften, Georg-August-Universität Göttingen, Technische Universität Dresden (TUD), Instituto de Geociências, Universidade de Brasília, Magnetic Resonance Imaging, Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa, Centre for Advanced Imaging, University of Queensland, Brisbane 4072, Australia, School of Psychology, University of Queensland, Brisbane 4072, Australia, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], University of York [York, UK], Centre for Cognitive Ageing & Cognitive Epidemiology, Department of Anatomy & Neurosciences, VU University Medical Center, Amsterdam, The Netherlands, University of Twente [Netherlands], Berlin School of Mind and Brain [Berlin], Humboldt Universität zu Berlin, Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Computational and Applied Mathematics [Houston], Rice University [Houston], Department of Physics [Kowloon], Hong Kong University of Science and Technology (HKUST), University College Dublin [Dublin] (UCD), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Greifswald University Hospital, University of Missouri [Columbia], University of Missouri System, Mechanics surfaces and materials processing (MSMP), École Nationale Supérieure d'Arts et Métiers (ENSAM), Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM), Department of Genetics, North Carolina State University [Raleigh] (NC State), University of North Carolina System (UNC)-University of North Carolina System (UNC), Dpt of Psychiatry [New Haven], Yale University School of Medicine, University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), Radboud University [Nijmegen], Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud University [Nijmegen]-Radboud University Medical Center [Nijmegen], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Heidelberg [Heidelberg] = Heidelberg University, Texas Biomedical Research Institute [San Antonio, TX], University of Pennsylvania-University of Pennsylvania, Radboud University [Nijmegen]-Radboud University [Nijmegen], [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Sans affiliation, Universität Mannheim, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Universität Zürich [Zürich] = University of Zurich (UZH), Seoul National University [Seoul] (SNU), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC), Georg-August-University = Georg-August-Universität Göttingen, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), University of Twente, Humboldt University Of Berlin, Centre épigénétique et destin cellulaire (EDC), Department of Physics [Hong Kong University of Science and Technology], University of Missouri [Columbia] (Mizzou), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Yale School of Medicine [New Haven, Connecticut] (YSM), Hal, GIN, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen]-Radboud University Medical Center [Nijmegen]-Radboud university [Nijmegen], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Georg-August-University [Göttingen], Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Humboldt-Universität zu Berlin, International Max Planck Research School for Language Sciences ( IMPRS ), Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands, Department of Psychiatry Yale School of Medicine New Haven USA, University of California [Irvine] ( UCI ), Laboratory of Neuro Imaging, David Geffen School of Medicine, University of California, Los Angeles, California, USA, Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands, University of Oslo ( UiO ) -Institute of Clinical Medicine-Oslo University Hospital, NORMENT - KG Jebsen Centre, Institute of Clinical Medicine, University of Oslo, Oslo N-0316, Norway, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Scottish Imaging Network, A Platform for Scientific Excellence (SINAPSE) Collaboration, Department of Neuroimaging Sciences, University of Edinburgh, Edinburgh EH4 2XU, UK, Department of Computer Science, Lagos State University, Lagos, Nigeria, Brain Research Imaging Centre, University of Edinburgh, Edinburgh EH4 2XU, UK, Heriot-Watt University [Edinburgh] ( HWU ), University College of London [London] ( UCL ), Centro de Investigación Biomédica en Red de Salud Mental ( CIBERSAM ), Cibersam (Centro Investigación Biomédica en Red Salud Mental), Madrid 28029, Spain, Imaging Genetics Center, Mark & Mary Stevens Neuroimaging & Informatics Institute, University of Southern California, Marina del Rey, CA, USA, The University of Adelaide, University of Texas Health Science Center, San Antonio, Texas 78229, USA, Texas Biomedical Research Institute, San Antonio, Texas 78245, USA, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India, Hospital of the University of Pennsylvania, University of New South Wales [Sydney] ( UNSW ), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] ( UKE ), The Mind Research Network & LBERI, Albuquerque, New Mexico 87106, USA, Department of ECE, University of New Mexico, Albuquerque, New Mexico 87131, USA, National Institutes of Health ( NIH ) -National Institute of Mental Health (NIMH), King's College, Center for disease control, China ( Chinese CDC ), GIN - IMN UMR 5293 CNRS CEA Université de Bordeaux, Institut des Maladies Neurodégénératives [Bordeaux] ( IMN ), Université de Bordeaux ( UB ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Bordeaux ( UB ) -Centre National de la Recherche Scientifique ( CNRS ), Centre for Cognitive Ageing and Cognitive Epidemiology, Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK, MRC- SGDP Centre, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London SE5 8AF, UK, Institut Armand Frappier ( INRS-IAF ), Institut National de la Recherche Scientifique [Québec] ( INRS ) -Réseau International des Instituts Pasteur ( RIIP ) -Institut Armand Frappier, NORMENT - KG Jebsen Centre, Division of Mental Health and Addiction, Oslo University Hospital, Oslo 0424, Norway, Institut national de la recherche agronomique [Jouy en Josas] ( INRA Jouy en Josas ), Department of Psychology, University of Oslo, Oslo 0373, Norway, Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Charite-Universitatsmedizin Berlin [Berlin], University of Nottingham, UK ( UON ), University Medicine Greifswald,-HELIOS Hospital Stralsund, Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development, Osaka University, Osaka 565-0871, Japan, (UCCAP) University of Zurich Zurich Switzerland, University Medical Center Groningen, University of Groningen, Karolinska University Hospital (Solna), Université de Cergy Pontoise ( UCP ), Bonn Universität [Bonn], Institut de Physique Nucléaire d'Orsay ( IPNO ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Centre National de la Recherche Scientifique ( CNRS ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] ( IDIBELL ), Universitat de Barcelona ( UB ), National University of Ireland [Galway] ( NUI Galway ), JRC Institute for Environment and Sustainability ( IES ), European Commission - Joint Research Centre [Ispra] ( JRC ) -European Commission - Joint Research Centre [Ispra] ( JRC ), University Medical Center Utrecht-Brain Center Rudolf Magnus, McConnell Brain Imaging Centre ( MNI ), Montreal Neurological Institute [Montréal], Universiteit van Amsterdam ( UvA ), The University of Sydney [Sydney], Department of Psychiatry, Neuroscience Campus Amsterdam, VU University Medical Center/GGZ inGeest, Amsterdam 1081 HL, The Netherlands, Technische Universität Dresden ( TUD ), Génétique humaine et Fonctions cognitives - Human Genetics and Cognitive Functions, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Centre épigénétique et destin cellulaire ( EDC ), Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Hong Kong University of Science and Technology ( HKUST ), University College Dublin [Dublin] ( UCD ), German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Greifswald 17487, Germany, Department of Psychiatry, University Medicine Greifswald, Greifswald 17489, Germany, University of Missouri-Columbia, Mechanics surfaces and materials processing ( MSMP ), North Carolina State University [Raleigh] ( NCSU ), and Yale School of Medicine
Subjects: Male, Aging, Planum temporale, Caudate nucleus, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Subcortical brain asymmetry, Functional Laterality, Behavioral Neuroscience, 0302 clinical medicine, pathology [Aging], ddc:150, 130 000 Cognitive Neurology & Memory, Basal ganglia, YOUNG-ADULTS, Brain asymmetry, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Handedness, Original Research, Sex Characteristics, Age, Enigma, Heritability, Meta-analysis, Sex, Putamen, 05 social sciences, Brain, Human brain, Organ Size, Middle Aged, Magnetic Resonance Imaging, AMYGDALA VOLUME, Psychiatry and Mental health, genetics [Functional Laterality], Globus pallidus, medicine.anatomical_structure, Neurology, BASAL GANGLIA VOLUMES, Radiology Nuclear Medicine and imaging, genetics [Aging], [ SCCO.NEUR ] Cognitive science/Neuroscience, CAUDATE-NUCLEUS, Female, Psychology, Sex characteristics, MRI, Neuroinformatics, Adult, Adolescent, Cognitive Neuroscience, Clinical Neurology, BF, HAND PREFERENCE, 050105 experimental psychology, 150 000 MR Techniques in Brain Function, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Quantitative Trait, Heritable, Meta-Analysis as Topic, medicine, Journal Article, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, diagnostic imaging [Brain], Aged, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], [SCCO.NEUR]Cognitive science/Neuroscience, TOURETTE-SYNDROME, [SCCO.NEUR] Cognitive science/Neuroscience, PLANUM TEMPORALE, NORMAL INDIVIDUALS, HEMISPHERIC-DIFFERENCES, nervous system, RC0321, Neurology (clinical), Neuroscience, anatomy & histology [Brain], 030217 neurology & neurosurgery
Abstract: The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen. Heritability estimates, derived from 1170 subjects belonging to 71 extended pedigrees, revealed that additive genetic factors influenced the asymmetry of these two structures and that of the hippocampus and thalamus. Handedness had no detectable effect on subcortical asymmetries, even in this unprecedented sample size, but the asymmetry of the putamen varied with age. Genetic drivers of asymmetry in the hippocampus, thalamus and basal ganglia may affect variability in human cognition, including susceptibility to psychiatric disorders. Electronic supplementary material The online version of this article (doi:10.1007/s11682-016-9629-z) contains supplementary material, which is available to authorized users.
Published: 2016

7. Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion

Author: Ludovic Lacroix, Felipe Andreiuolo, Fabrice Chrétien, Frédéric Fina, Pascale Varlet, Arnault Tauziède-Espariat, Stéphanie Puget, Julia A. Bridge, David Castel, Emmanuèle Lechapt-Zalcman, Xiao Qiong Liu, Estelle Daudigeos-Dubus, Vita Ridola, Marc Polivka, Nathalie Boddaert, Mélanie Pagès, Jacques Grill, Sophie Gilles, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre Hospitalier Sainte Anne [Paris], Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] (UMR 8203), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Hôpital Lariboisière, Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Necker - Enfants Malades [AP-HP], University of Nebraska Medical Center, University of Nebraska System, Histopathologie humaine et Modèles animaux, Institut Pasteur [Paris], Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Lariboisière-Fernand-Widal [APHP], Institut Pasteur [Paris] (IP), Centre de Psychiatrie et Neurosciences (U894), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Institut Gustave Roussy (IGR)-Université Paris-Sud - Paris 11 (UP11), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Institut Gustave Roussy ( IGR ), Vectorologie et thérapeutiques anti-cancéreuses [Villejuif] ( UMR 8203 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales ( ISTCT ), Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Centre National de la Recherche Scientifique ( CNRS ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Laboratoire d'Anatomie Pathologique [Caen], Normandie Université ( NU ) -Normandie Université ( NU ) -CHU Caen, Centre de Psychiatrie et Neurosciences ( CPN - U894 ), and Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )
Subjects: Male, Pathology, [SDV]Life Sciences [q-bio], Antigens, CD34, medicine.disease_cause, Ganglioglioma, 0302 clinical medicine, KIAA-BRAF, Child, ganglioglioma, Mutation, medicine.diagnostic_test, Brain Neoplasms, Kinase, Glioma, Magnetic Resonance Imaging, Neoplasms, Neuroepithelial, 3. Good health, angiocentric neuroepithelial tumors, SLC44A1-PRKCA, Child, Preschool, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, Oncogene Fusion, Adult, medicine.medical_specialty, Protein Kinase C-alpha, Adolescent, Organic Cation Transport Proteins, MAP Kinase Signaling System, Papillary glioneuronal tumor, Nerve Tissue Proteins, BRAF, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Western blot, Antigens, CD, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 1, rosette-forming glioneuronal tumors of the fourth ventricle, [ SDV ] Life Sciences [q-bio], business.industry, Research, medicine.disease, MAPK, FGFR1, Neurology (clinical), business, 030217 neurology & neurosurgery, Fluorescence in situ hybridization
Abstract: International audience; INTRODUCTION:Papillary Glioneuronal Tumor (PGNT) is a grade I tumor which was classified as a separate entity in the World Health Organization Classification of the Central Nervous System 2007 in the group of mixed glioneuronal tumors. This tumor is rare and subclassifying PGNT represents a challenge. Recently, a fusion between SLC44A1 and PRKCA which encodes a protein kinase C involved in MAPK signaling pathway has been described in two studies (five cases). The current study aimed at raising the cytogenetic, histological and molecular profiles of PGNT and to determine if SLC44A1-PRKCA fusion represented a specific diagnostic marker to distinguish it from other glioneuronal tumors.RESULTS:We report on four pediatric cases of PGNT, along with clinico-radiologic and immunohistological features for which SLC44A1-PRKCA fusion assessment by fluorescence in situ hybridization, BRAF V600E and FGFR1 mutation by immunohistochemistry and direct DNA sequencing and KIAA1549-BRAF fusion by RT-PCR were performed. MAPK signaling pathway activation was investigated using phospho-ERK immunohistochemistry and western blot. We analyzed fifteen cases of tumors with challenging histological or clinical differential diagnoses showing respectively a papillary architecture or periventricular location (PGNT mimics). fluorescence in situ hybridization analysis revealed a constant SLC44A1-PRKCA fusion signal in all PGNTs. None of PGNT mimics showed the SLC44A1-PRKCA fusion signal pattern. All PGNTs were negative for BRAF V600E and FGFR1 mutation, and KIAA1549-BRAF fusion. Phospho-ERK analysis provides arguments for the activation of the MAPK signaling pathway in these tumors.CONCLUSIONS:Here we confirmed and extended the molecular data on PGNT. These results suggest that PGNT belong to low grade glioma with MAPK signaling pathway deregulation. SLC44A1-PRKCA fusion seems to be a specific characteristic of PGNT with a high diagnostic value and detectable by FISH.
Published: 2015

8. In vivo estimates of NO and CO conductance for haemoglobin and for lung transfer in humans

Author: Sebastien Martin, Sophie Lalande, Bertrand Maury, Jean-Benoit Martinot, Hervé Guénard, C. Kays, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Laboratoire de Mathématiques d'Orsay (LM-Orsay), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Institut National de l'Audiovisuel (INA), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Mathématiques Appliquées à Paris 5 ( MAP5 - UMR 8145 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National des Sciences Mathématiques et de leurs Interactions-Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ), Laboratoire de Mathématiques d'Orsay ( LM-Orsay ), Université Paris-Sud - Paris 11 ( UP11 ) -Centre National de la Recherche Scientifique ( CNRS ), Institut National de l'Audiovisuel ( INA ), and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: Pulmonary and Respiratory Medicine, Adult, Male, medicine.medical_specialty, Physiology, Capillary action, Diffusion, Thermodynamics, Nitric Oxide, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, 03 medical and health sciences, Hemoglobins, Young Adult, 0302 clinical medicine, In vivo, [MATH.MATH-ST]Mathematics [math]/Statistics [math.ST], medicine, Gas exchange, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Pressure, Humans, Lung volumes, [ MATH.MATH-ST ] Mathematics [math]/Statistics [math.ST], Lung, Aged, Nitrogen monoxide, Carbon Monoxide, Chemistry, [ SDV.MHEP.PHY ] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Pulmonary Gas Exchange, General Neuroscience, Pulmonary Diffusing Capacity, Models, Cardiovascular, Conductance, Middle Aged, Surgery, Capillaries, Oxygen, medicine.anatomical_structure, 030228 respiratory system, Linear Models, Female, 030217 neurology & neurosurgery, Linear equation, [ SDV.MHEP.PSR ] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
Abstract: International audience; Membrane conductance (Dm) and capillary lung volume (Vc) derived from NO and CO lung transfer measurements in humans depend on the blood conductance (θ) values of both gases. Many θ values have been proposed in the literature. In the present study, measurements of CO and NO transfer while breathing 15% or 21% O2 allowed the estimation of θNO and the calculation of the optimal equation relating 1/θCO to pulmonary capillary oxygen pressure (PcapO2). In 10 healthy subjects, the mean calculated θNO value was similar to the θNO value previously reported in the literature (4.5mmHgmin(-1)) provided that one among three θCO equations from the literature was chosen. Setting 1/θCO=a·PcapO2+b, optimal values of a and b could be chosen using two methods: 1) by minimizing the difference between Dm/Vc ratios for any PcapO2, 2) by establishing a linear equation relating a and b. Using these methods, we are proposing the equation 1/θCO=0.0062·PcapO2+1.16, which is similar to two equations previously reported in the literature. With this set of θ values, DmCO reached the morphometric range.
Published: 2015

9. Cannabis use in early adolescence: Evidence of amygdala hypersensitivity to signals of threat

Author: Tomáš Paus, Tobias Banaschewski, Bernd Ittermann, Bader Chaarani, Frauke Nees, Hugh Garavan, Christian Büchel, Anna Cattrell, Scott Mackey, Gunter Schumann, Vincent Frouin, Jürgen Gallinat, Philip A. Spechler, Uli Bromberg, Henrik Walter, Michael N. Smolka, Stephen T. Higgins, Penny A. Gowland, Catherine Orr, Herta Flor, Luise Poustka, Kees-Jan Kan, Mitchell P. Snowe, Dimitri Papadopoulos, Aaron Morton, Jean-Luc Martinot, Arun L.W. Bokde, Patricia J. Conrod, Kelsey Hudson, Robert Whelan, Eric Artiges, Andreas Heinz, Robert R. Althoff, Animal Husbandry, Animal Science Group of Wageningen UR, Computer Vision and Multimedia Laboratory [Geneve] (CVML), Université de Genève = University of Geneva (UNIGE), Institute of Ecology, Evolution and Diversity, Frankfurt, Goethe-University Frankfurt am Main-Goethe-Universität Frankfurt am Main, Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg] = Heidelberg University, Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Adolescent psychopathology and Medicine, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Technische Universität Dresden = Dresden University of Technology (TU Dresden), University of Vermont [Burlington], IMAGEN Consortium, Computer Vision and Multimedia Laboratory [Geneve] ( CVML ), Université de Genève ( UNIGE ), Goethe-University Frankfurt am Main-Goethe University, Universität Heidelberg [Heidelberg], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] ( UKE ), King's College, Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, University of Nottingham, UK ( UON ), McConnell Brain Imaging Centre ( MNI ), Montreal Neurological Institute [Montréal], McGill University-McGill University, Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), CHU Cochin [AP-HP], Technische Universität Dresden ( TUD ), Université de Montréal. Faculté de médecine. Département de psychiatrie et d'addictologie, Université de Genève (UNIGE), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), and Technische Universität Dresden (TUD)
Subjects: Male, Marijuana Abuse, Cannabinoid receptor, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, Functional Laterality, Developmental psychology, Longitudinal Studies, Faces, Reactivity (psychology), ComputingMilieux_MISCELLANEOUS, Cerebral Cortex, Intelligence Tests, Intelligence quotient, biology, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, lcsh:QP351-495, Smoking, fMRI, Fear, Amygdala, Magnetic Resonance Imaging, Adolescence, Facial Expression, Alcoholism, medicine.anatomical_structure, FMRI, Visual Perception, Female, Psychology, Clinical psychology, Adolescent, Cognitive Neuroscience, Article, medicine, Face processing, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Cannabis, Emotion, Facial expression, medicine.disease, biology.organism_classification, Dorsolateral prefrontal cortex, lcsh:Neurophysiology and neuropsychology, Mood disorders, Face, Psychomotor Performance
Abstract: Cannabis use in adolescence may be characterized by differences in the neural basis of affective processing. In this study, we used an fMRI affective face processing task to compare a large group (n = 70) of 14-year olds with a history of cannabis use to a group (n = 70) of never-using controls matched on numerous characteristics including IQ, SES, alcohol and cigarette use. The task contained short movies displaying angry and neutral faces. Results indicated that cannabis users had greater reactivity in the bilateral amygdalae to angry faces than neutral faces, an effect that was not observed in their abstinent peers. In contrast, activity levels in the cannabis users in cortical areas including the right temporal-parietal junction and bilateral dorsolateral prefrontal cortex did not discriminate between the two face conditions, but did differ in controls. Results did not change after excluding subjects with any psychiatric symptomology. Given the high density of cannabinoid receptors in the amygdala, our findings suggest cannabis use in early adolescence is associated with hypersensitivity to signals of threat. Hypersensitivity to negative affect in adolescence may place the subject at-risk for mood disorders in adulthood.
Published: 2015

10. New evidence of factor structure and measurement invariance of the SDQ across five European nations

Author: Marie-Laure Paillère-Martinot, Vincent Frouin, Anna Cattrell, Penny A. Gowland, Alvaro Moreno Velasco, Gunter Schumann, Edurne Chocarro de Luis, Javier Ortuño-Sierra, Tomáš Paus, Herta Flor, Henrik Walter, Arun L.W. Bokde, Tobias Banaschewski, Eduardo Fonseca-Pedrero, Christian Buechel, Frauke Nees, Dimitri Papadopoulos, Robert Whelan, Luise Poustka, Jean-Luc Martinot, Nora C. Vetter, Andreas Heinz, Patricia J. Conrod, Claire Lawrence, Rebeca Aritio-Solana, Maren Struve, Michael N. Smolka, Juergen Gallinat, Hugh Garavan, Uli Bromberg, Hereditary Cancer Program, Institut Català d'Oncologia, Girona Biomedical Research Institute, Josep Trueta University Hospital, Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg], Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of Vermont [Burlington], Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Adolescent psychopathology and Medicine, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Technische Universität Dresden = Dresden University of Technology (TU Dresden), IMAGEN, Université de Montréal. Faculté de médecine. Département de psychiatrie et d'addictologie, King's College, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] ( UKE ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, University of Nottingham, UK ( UON ), McConnell Brain Imaging Centre ( MNI ), Montreal Neurological Institute [Montréal], McGill University-McGill University, Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), CHU Cochin [AP-HP], Technische Universität Dresden ( TUD ), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Technische Universität Dresden (TUD), Universität Heidelberg [Heidelberg] = Heidelberg University, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Adolescent, Psychometrics, Sample (statistics), Test validity, Adolescents, Measurement Invariance, Developmental psychology, SDQ, Goodness of fit, Surveys and Questionnaires, Ethnicity, Developmental and Educational Psychology, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Measurement invariance, Behavioural problems, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, General Medicine, Strengths and Difficulties Questionnaire, Confirmatory factor analysis, Test (assessment), Europe, Psychiatry and Mental health, Prosocial behavior, Pediatrics, Perinatology and Child Health, Female, Self Report, Factor Analysis, Statistical, Factorial Structure, Psychology, Self-report
Abstract: International audience; The main purpose of the present study was to analyse the internal structure and to test the measurement invariance of the Strengths and Difficulties Questionnaire (SDQ), self-reported version, in five European countries. The sample consisted of 3012 adolescents aged between 12 and 17 years (M = 14.20; SD = 0.83). The five-factor model (with correlated errors added), and the five-factor model (with correlated errors added) with the reverse-worded items allowed to cross-load on the Prosocial subscale, displayed adequate goodness of-fit indices. Multi-group confirmatory factor analysis showed that the five-factor model (with correlated errors added) had partial strong measurement invariance by countries. A total of 11 of the 25 items were non-invariant across samples. The level of internal consistency of the Total difficulties score was 0.84, ranging between 0.69 and 0.78 for the SDQ subscales. The findings indicate that the SDQ's subscales need to be modified in various ways for screening emotional and behavioural problems in the five European countries that were analysed.
Published: 2015

11. The Brain’s Response to Reward Anticipation and Depression in Adolescence: Dimensionality, Specificity, and Longitudinal Predictions in a Community-Based Sample

Author: Stringaris, Argyris, Vidal-Ribas Belil, Pablo, Artiges , Eric, Lemaitre, Hervé, Gollier-Briant, Fanny, Wolke, Selina, Vulser, Hélène, Miranda, Ruben, Penttilä, Jani, Struve, Maren, Fadai, Tahmine, Kappel, Viola, Grimmer, Yvonne, Goodman, Robert, Poustka, Luise, Conrod, Patricia, Poline, Jean-Baptiste, Cattrell, Anna, Banaschewski, Tobias, Bokde, Arun L.W., Bromberg, Uli, Büchel, Christian, Flor, Herta, Frouin, Vincent, Gallinat, Juergen, Garavan, Hugh, Gowland, Penny, Heinz, Andreas, Ittermann, Bernd, Nees, Frauke, Papadopoulos, Dimitri, Paus, Tomas, Smolka, Michael N., Walter, Henrik, Whelan, Rob, Martinot, Jean-Luc, Schumann, Gunter, Paillère-Martinot, Marie-Laure, Consortium, The IMAGEN, Williams, Steven, Loth, Eva, Adolescent psychopathology and Medicine, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Instituto IMDEA Nanociencia [Madrid], Instituto Imdea Nanociencia, Imagerie Cerebrale en Psychiatrie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Child and Adolescent Psychiatry, King's College London Institute of Psychiatry, Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg], Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of Vermont [Burlington], Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Technische Universität Dresden = Dresden University of Technology (TU Dresden), IMAGEN Consortium, CHU Cochin [AP-HP], Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), King's College, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] ( UKE ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, University of Nottingham, UK ( UON ), McConnell Brain Imaging Centre ( MNI ), Montreal Neurological Institute [Montréal], McGill University-McGill University, Technische Universität Dresden ( TUD ), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Heidelberg [Heidelberg] = Heidelberg University, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), and Technische Universität Dresden (TUD)
Subjects: Male, medicine.medical_specialty, Adolescent, Anhedonia, behavioral disciplines and activities, Brain mapping, Article, 03 medical and health sciences, 0302 clinical medicine, Reward, Functional neuroimaging, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Psychiatry, Depression (differential diagnoses), Brain Mapping, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, Depression, Subthreshold conduction, Functional Neuroimaging, Ventral striatum, Magnetic Resonance Imaging, Anticipation, 030227 psychiatry, Affect, Psychiatry and Mental health, medicine.anatomical_structure, Mood, nervous system, Ventral Striatum, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, psychological phenomena and processes, Clinical psychology
Abstract: International audience; OBJECTIVE: The authors examined whether alterations in the brain's reward network operate as a mechanism across the spectrum of risk for depression. They then tested whether these alterations are specific to anhedonia as compared with low mood and whether they are predictive of depressive outcomes.METHOD: Functional MRI was used to collect blood-oxygen-level-dependent (BOLD) responses to anticipation of reward in the monetary incentive task in 1,576 adolescents in a community-based sample. Adolescents with current subthreshold depression and clinical depression were compared with matched healthy subjects. In addition, BOLD responses were compared across adolescents with anhedonia, low mood, or both symptoms, cross-sectionally and longitudinally.RESULTS: Activity in the ventral striatum was reduced in participants with subthreshold and clinical depression relative to healthy comparison subjects. Low ventral striatum activation predicted transition to subthreshold or clinical depression in previously healthy adolescents at 2-year follow-up. Brain responses during reward anticipation decreased in a graded manner between healthy adolescents, adolescents with current or future subthreshold depression, and adolescents with current or future clinical depression. Low ventral striatum activity was associated with anhedonia but not low mood; however, the combined presence of both symptoms showed the strongest reductions in the ventral striatum in all analyses.CONCLUSIONS: The findings suggest that reduced striatal activation operates as a mechanism across the risk spectrum for depression. It is associated with anhedonia in healthy adolescents and is a behavioral indicator of positive valence systems, consistent with predictions based on the Research Domain Criteria.
Published: 2015

12. Voxelwise genome-wide association study on gray matter volume reveals a SLC39A8 variant associated with subcortical structures

Author: Lajous , Hélène, Da Mota , Benoit, Li , Jinpeng, Duchesnay , Edouard, Lemaître , Hervé, Ducrot , Vincent, Frouin , Vincent, Unité Analyse et Traitement de l'Information (UNATI), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, AS+ Groupe EOLEN, Laboratoire d'Etudes et de Recherche en Informatique d'Angers (LERIA), Université d'Angers (UA), Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), ANR-10-BINF-0, IMAGEN Consortium, Duchange, Nathalie, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Analyse et Traitement de l'Information ( UNATI ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Laboratoire d'Etudes et de Recherche en Informatique d'Angers ( LERIA ), Université d'Angers ( UA ), Neuroimagerie en psychiatrie ( U1000 ), and Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 )
Subjects: [SDV.IB] Life Sciences [q-bio]/Bioengineering, Imaging Genetics, [SDV.IB]Life Sciences [q-bio]/Bioengineering, [ SDV.IB ] Life Sciences [q-bio]/Bioengineering, MRI, SNPs
Abstract: Congrès sous l’égide de la Société Française de Génie Biologique et Médical (SFGBM); National audience; We implemented a brain-wise genome-wide association tool and ran a study on gray matter in neuroimaging. It reveals an association between Pallidum/Putamen regions and a SNP; both may be related to existing neuroimaging and genetics findings.
Published: 2015

13. Chronic alcohol consumption and its effect on nodes of frontocerebellar and limbic circuitry: Comparison of effects in France and the United States

Author: Le Berre, Anne-Pascale, Pitel, Anne-Lise, Chanraud, Sandra, Beaunieux, Hélène, Eustache, Francis, Martinot, Jean-Luc, Reynaud, Michel, Martelli, Catherine, Rohlfing, Torsten, Sullivan, Edith, Pfefferbaum, Adolf, Department of Psychiatry and Behavioral Sciences [Stanford], Stanford Medicine, Stanford University-Stanford University, Neuropsychologie cognitive et neuroanatomie fonctionnelles de la mémoire humaine, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroscience Program, SRI Internatinal, Imagerie moléculaire et fonctionnelle: de la physiologie à la thérapie, Université Bordeaux Segalen - Bordeaux 2-IFR8-Centre National de la Recherche Scientifique (CNRS), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Troubles du comportement alimentaire de l'adolescent (UMR_S 669), Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de psychiatrie et addictologie, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse, Université Paris-Sud - Paris 11 (UP11), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), EPHE, Bordeaux, France, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Department of Psychiatry and Behavioral Sciences, Stanford University Shool of medecine, Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -École pratique des hautes études ( EPHE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Bordeaux Segalen - Bordeaux 2-IFR8-Centre National de la Recherche Scientifique ( CNRS ), École pratique des hautes études ( EPHE ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Troubles du comportement alimentaire de l'adolescent ( UMR_S 669 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris-Sud - Paris 11 ( UP11 ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Paul Brousse, Université Paris-Sud - Paris 11 ( UP11 ), and Eustache, Francis
Subjects: Adult, Male, Ethanol, alcoholism, alcohol, brain, Central Nervous System Depressants, Organ Size, Middle Aged, Magnetic Resonance Imaging, United States, Article, Atlases as Topic, Alcohol Amnestic Disorder, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Interview, Psychological, Image Processing, Computer-Assisted, Humans, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, Korsakoff's syndrome, MRI
Abstract: International audience; Alcohol use disorders present a significant public health problem in France and the United States (U.S.), but whether the untoward effect of alcohol on the brain results in similar damage in both countries remains unknown. Accordingly, we conducted a retrospective collaborative investigation between two French sites (Caen and Orsay) and a U.S. laboratory (SRI/Stanford University) with T1-weighted, structural MRI data collected on a common imaging platform (1.5T, General Electric) on 288 normal controls (NC), 165 uncomplicated alcoholics (ALC), and 26 patients with alcoholic Korsakoff's syndrome (KS) diagnosed at all sites with a common interview instrument. Data from the two countries were pooled, then preprocessed and analyzed together at the U.S. site using atlas-based parcellation. National differences indicated that thalamic volumes were smaller in ALC in France than the U.S. despite similar alcohol consumption levels in both countries. By contrast, volumes of the hippocampus, amygdala, and cerebellar vermis were smaller in KS in the U.S. than France. Estimated amount of alcohol consumed over a lifetime, duration of alcoholism, and length of sobriety were significant predictors of selective regional brain volumes in France and in the U.S. The common analysis of MRI data enabled identification of discrepancies in brain volume deficits in France and the U.S. that may reflect fundamental differences in the consequences of alcoholism on brain structure between the two countries, possibly related to genetic or environmental differences. Hum Brain Mapp, 2014. © 2014 Wiley Periodicals, Inc.
Published: 2014

14. Improved accuracy of the diagnosis of early Alzheimer’s disease using combined measures of hippocampal volume and sulcal morphology

Author: Hamelin, Lorraine, Cruz de Souza, Leonardo, Corlier, Fabian, Corne, Hélène, Chupin, Marie, Dubois, Bruno, Bottlaender, Michel, Colliot, Olivier, Sarazin, Marie, Algorithms, models and methods for images and signals of the human brain (ARAMIS), Inria Paris-Rocquencourt, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Neurologie de la mémoire et du langage [CHU Ste Anne], Université Paris Descartes - Paris 5 (UPD5), Institut d'Imagerie BioMédicale (I2BM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence sur les démences rares et maladie de Pick, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Fédération de neurologie 4, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Colliot, Olivier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Algorithms, models and methods for images and signals of the human brain ( ARAMIS ), Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -CHU Pitié-Salpêtrière [APHP]-Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -CHU Pitié-Salpêtrière [APHP], Université Paris Descartes - Paris 5 ( UPD5 ), CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP)-Université Pierre et Marie Curie - Paris 6 ( UPMC ), Institut d'Imagerie BioMédicale ( I2BM ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Neuroimagerie en psychiatrie ( U1000 ), and Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )
Subjects: [ SPI.SIGNAL ] Engineering Sciences [physics]/Signal and Image processing, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, ComputingMilieux_MISCELLANEOUS, [SPI.SIGNAL] Engineering Sciences [physics]/Signal and Image processing
Abstract: International audience
Published: 2014

15. Significant correlation between a set of genetic polymorphisms and a functional brain network revealed by feature selection and sparse Partial Least Squares

Author: Vincent Frouin, Stanislas Dehaene, Christophe Lalanne, Monica Zilbovicius, Antonio Moreno, Thomas Bourgeron, Jean-Baptiste Poline, Arthur Tenenhaus, Vincent Guillemot, Laura Trinchera, Philippe Pinel, Edith Le Floch, Edouard Duchesnay, Bertrand Thirion, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Arts et Métiers ParisTech, HESAM Université (HESAM), Recherche Clinique ville-hôpital, Méthodologies et Société (REMES), Université Paris Diderot - Paris 7 (UPD7), AgroParisTech, Laboratoire des signaux et systèmes (L2S), Université Paris-Sud - Paris 11 (UP11)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), Université de Tsukuba = University of Tsukuba, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris], Chaire Psychologie cognitive expérimentale, Collège de France (CdF (institution)), Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Lawrence Berkeley National Laboratory [Berkeley] (LBNL), This work was supported by CEA and the Karametria grant for the French National Agency for Research (ANR). Support was also partially provided by the IMAGEN project, which receives research funding from the European Community's Sixth Framework Programme (LSHM-CT-2007-037286), ANR-09-BLAN-0332,KaraMetria,Karametria (Analyse statistique des structures cérébrales)(2009), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Collège de France - Chaire Psychologie cognitive expérimentale, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique ( CNRS ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Recherche Clinique ville-hôpital, Méthodologies et Société ( REMES ), Université Paris Diderot - Paris 7 ( UPD7 ), Laboratoire des signaux et systèmes ( L2S ), Université Paris-Sud - Paris 11 ( UP11 ) -CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ), University of Tsukuba, Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Génétique humaine et Fonctions cognitives - Human Genetics and Cognitive Functions, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Collège de France ( CDF ), Collège de France ( CdF ), Modelling brain structure, function and variability based on high-field MRI data ( PARIETAL ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ), University of California [Berkeley], ANR-09-BLAN-0332,KaraMetria,KaraMetria ( 2009 ), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Multivariate statistics, Imaging genetics, Cognitive Neuroscience, Context (language use), Feature selection, Overfitting, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Pattern Recognition, Automated, Partial least squares regression, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Cognition, Neuroimaging, Canonical correlation analysis, Humans, Least-Squares Analysis, Multivariate genetic analysis, 030304 developmental biology, Mathematics, 0303 health sciences, Brain Mapping, [STAT.AP]Statistics [stat]/Applications [stat.AP], business.industry, Dimensionality reduction, [ STAT.AP ] Statistics [stat]/Applications [stat.AP], Univariate, Brain, Reproducibility of Results, Pattern recognition, Magnetic Resonance Imaging, Regularisation, Neurology, Data Interpretation, Statistical, Female, Artificial intelligence, Nerve Net, business, 030217 neurology & neurosurgery
Abstract: Brain imaging is increasingly recognised as an intermediate phenotype to understand the complex path between genetics and behavioural or clinical phenotypes. In this context, a first goal is to propose methods to identify the part of genetic variability that explains some neuroimaging variability. Classical univariate approaches often ignore the potential joint effects that may exist between genes or the potential covariations between brain regions. In this paper, we propose instead to investigate an exploratory multivariate method in order to identify a set of Single Nucleotide Polymorphisms (SNPs) covarying with a set of neuroimaging phenotypes derived from functional Magnetic Resonance Imaging (fMRI). Recently, Partial Least Squares (PLS) regression or Canonical Correlation Analysis (CCA) have been proposed to analyse DNA and transcriptomics. Here, we propose to transpose this idea to the DNA vs. imaging context. However, in very high-dimensional settings like in imaging genetics studies, such multivariate methods may encounter overfitting issues. Thus we investigate the use of different strategies of regularisation and dimension reduction techniques combined with PLS or CCA to face the very high dimensionality of imaging genetics studies. We propose a comparison study of the different strategies on a simulated dataset first and then on a real dataset composed of 94 subjects, around 600,000 SNPs and 34 functional MRI lateralisation indexes computed from reading and speech comprehension contrast maps. We estimate the generalisability of the multivariate association with a cross-validation scheme and demonstrate the significance of this link, using a permutation procedure. Univariate selection appears to be necessary to reduce the dimensionality. However, the significant association uncovered by this two-step approach combining univariate filtering and L1-regularised PLS suggests that discovering meaningful genetic associations calls for a multivariate approach.
Published: 2012

16. Discriminative network models of Schizophrenia

Author: Cecchi, Guillermo, Rish, Irina, Thyreau, Benjamin, Thirion, Bertrand, Plaze, Marion, Martinot, Jean-Luc, Pallière-Martinot, Marie-Laure, Poline, Jean-Baptiste, IBM [Yorktown] (IBM), IBM, Laboratoire de Neuroimagerie Assistée par Ordinateur (LNAO), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Imagerie Cerebrale en Psychiatrie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie cérébrale en psychiatrie, Maison de Solenn [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Y. Bengio, D. Schuurmans, J. Lafferty, C. Williams, A. Culotta, Laboratoire de Neuroimagerie Assistée par Ordinateur ( LNAO ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Modelling brain structure, function and variability based on high-field MRI data ( PARIETAL ), Service NEUROSPIN ( NEUROSPIN ), Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) ( DRF (CEA) ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Neuroimagerie en psychiatrie (U1000), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)
Subjects: [INFO.INFO-LG]Computer Science [cs]/Machine Learning [cs.LG], behavioral disciplines and activities, [ INFO.INFO-LG ] Computer Science [cs]/Machine Learning [cs.LG]
Abstract: International audience; Schizophrenia is a complex psychiatric disorder that has eluded a characterization in terms of local abnormalities of brain activity, and is hypothesized to affect the collective, "emergent" working of the brain. We propose a novel data-driven approach to capture emergent features using functional brain networks [4] extracted from fMRI data, and demonstrate its advantage over traditional region-of-interest (ROI) and local, task-specific linear activation analyzes. Our results suggest that schizophrenia is indeed associated with disruption of global brain properties related to its functioning as a network, which cannot be explained by alteration of local activation patterns. Moreover, further exploitation of interactions by sparse Markov Random Field classifiers shows clear gain over linear methods, such as Gaussian Naive Bayes and SVM, allowing to reach 86% accuracy (over 50% baseline- random guess), which is quite remarkable given that it is based on a single fMRI experiment using a simple auditory task.
Published: 2009

17. Processing of voices in deafness rehabilitation by auditory brainstem implant

Author: Eric Bizaguet, Michel Kalamarides, Arnaud Coez, André Syrota, Isabelle Mosnier, Emmanuèle Ambert-Dahan, Yves Samson, Evelyne Ferrary, Olivier Sterkers, Monica Zilbovicius, Didier Bouccara, IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chirurgie otologique mini-invasive robotisée, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'oto-rhino-laryngologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Claude Bernard - Physiologie et Pathologie ((IFR_2)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurochirurgie, Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Hôpital Beaujon-Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Beaujon, Institut Claude Bernard - Physiologie et Pathologie, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Commissariat à l'Energie Atomique, Direction des Sciences du Vivant, Département de Recherche Médicale, Service Hospitalier Frédéric Joliot, Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière ( NEMESIS-CRICM ), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Hôpital Beaujon [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)
Subjects: Adult, Male, medicine.medical_specialty, Hearing loss, Cognitive Neuroscience, Audiology, Intelligibility (communication), Deafness, Auditory cortex, Auditory Brain Stem Implantation, 03 medical and health sciences, 0302 clinical medicine, medicine, otorhinolaryngologic diseases, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Neurofibromatosis type 2, 030223 otorhinolaryngology, Language, Auditory Cortex, Brain Mapping, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, Superior temporal sulcus, medicine.disease, Neurology, Cerebral blood flow, Auditory Perception, Evoked Potentials, Auditory, Female, Brainstem, medicine.symptom, Psychology, 030217 neurology & neurosurgery, Auditory brainstem implant
Abstract: International audience; The superior temporal sulcus (STS) is specifically involved in processing the human voice. Profound acquired deafness by post-meningitis ossified cochlea and by bilateral vestibular schwannoma in neurofibromatosis type 2 patients are two indications for auditory brainstem implantation (ABI). In order to objectively measure the cortical voice processing of a group of ABI patients, we studied the activation of the human temporal voice areas (TVA) by PET H(2)(15)O, performed in a group of implanted deaf adults (n=7) with more than two years of auditory brainstem implant experience, with an intelligibility score average of 17%+/-17 [mean+/-SD]. Relative cerebral blood flow (rCBF) was measured in the three following conditions: during silence, while passive listening to human voice, and to non-voice stimuli. Compared to silence, the activations induced by voice and non-voice stimuli were bilaterally located in the superior temporal regions. However, compared to non-voice stimuli, the voice stimuli did not induce specific supplementary activation of the TVA along the STS. The comparison of ABI group with a normal-hearing controls group (n=7) showed that TVA activations were significantly enhanced among controls group. ABI allowed the transmission of sound stimuli to temporal brain regions but lacked transmitting the specific cues of the human voice to the TVA. Moreover, among groups, during silent condition, brain visual regions showed higher rCBF in ABI group, although temporal brain regions had higher rCBF in the controls group. ABI patients had consequently developed enhanced visual strategies to keep interacting with their environment.
Published: 2009

18. Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency

Author: Isabelle Meresse, Anne de Saint Martin, Nathalie Boddaert, Jamel Chelly, Silvia Sacco, Vincent des Portes, Sandra Chanraud, Gérald Bussy, Monica Zilbovicius, Aurore Curie, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de pédiatrie, CHU Strasbourg, Imagerie moléculaire et fonctionnelle: de la physiologie à la thérapie, Université Bordeaux Segalen - Bordeaux 2-IFR8-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire sur le langage, le cerveau et la cognition (L2C2), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Handicaps génétiques de l'enfant, Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), Université Bordeaux Segalen - Bordeaux 2 - IFR8 - Centre National de la Recherche Scientifique (CNRS), Institut Cochin, Université Sorbonne Paris Cité (USPC) - Université Paris Descartes - Paris 5 (UPD5) - Centre National de la Recherche Scientifique (CNRS) - Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropédiatrie, PRES Université de Lyon - CHU de Lyon, Centre de Référence Maladies Rares ' malformations et maladies congénitales du cervelet ', Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille) - Hospices Civils de Lyon - CHU Trousseau [APHP], Service de neuropédiatrie [Trousseau], Université Bordeaux Segalen - Bordeaux 2-IFR8-Centre National de la Recherche Scientifique ( CNRS ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratoire sur le langage, le cerveau et la cognition ( L2C2 ), École normale supérieure - Lyon ( ENS Lyon ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS ), and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: Adult, Male, Cerebellum, Physiology, Brain mapping, 03 medical and health sciences, [SCCO]Cognitive science, 0302 clinical medicine, Thalamus, Intellectual Disability, Genetics, medicine, Humans, Genetics (clinical), 030304 developmental biology, Guanine Nucleotide Dissociation Inhibitors, 0303 health sciences, Brain Mapping, Nerve Fibers, Unmyelinated, medicine.diagnostic_test, business.industry, Neuropsychology, Magnetic resonance imaging, General Medicine, Voxel-based morphometry, [SCCO] Cognitive science, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Frontal Lobe, Developmental disorder, medicine.anatomical_structure, rab GTP-Binding Proteins, Endophenotype, Case-Control Studies, Mutation, [ SCCO ] Cognitive science, Abnormality, Nerve Net, business, 030217 neurology & neurosurgery
Abstract: International audience; Background: Rab-GDI mutations are responsible for "pure" mental deficiency, without any specific clinical features or brain malformation. Therefore, screening for mutations in mentally retarded patients is not available on a routine basis. Moreover, neuronal networks involved in mental deficiency still remain largely unknown.Methods: We performed a fine neuropsychological and imaging study in five patients from two unrelated families, affected with mental deficiency due to a mutation in the Rab-GDI gene. High resolution 3D brain MRI of the five mentally retarded adult males (mean age 33 years) were compared to MRI of 14 healthy males (mean age 35 years) using a Voxel-Based Morphometric analysis (VBM).Results: All patients had isolated moderate mental retardation (WAIS-III IQ range, 41-50; mean 45) without specific morphological or behavioural features. No obvious brain abnormality was observed on visual inspection of individual scans. Using VBM analysis, Rab-GDI mutated patients' MRIs exhibited significant brain changes compared to normal subjects (p < 0.05, corrected for multiple comparisons): increased grey matter density in left cerebellum and in left angular gyrus, decreased grey matter volume in thalami, decreased white matter density in prefrontal lobes, right fusiform occipito-temporal gyrus, and decreased white matter volume in cerebellar peduncles.Conclusions: These morphological changes observed in Rab-GDI mutated patients, mainly localized in the cerebello-thalamo-prefrontal pathway, are consistent with the hypothesis that the cerebellum is one of the critical components of a global learning network. Our results open new avenues in the diagnosis of non-specific mental deficiency using gene-specific "brain maps" as endophenotypes. (C) 2008 Elsevier Masson SAS. All rights reserved.
Published: 2009

19. Cochlear implant benefits in deafness rehabilitation: PET study of temporal voice activations

Author: Evelyne Ferrary, André Syrota, Isabelle Mosnier, Emmanuèle Ambert-Dahan, Olivier Sterkers, Didier Bouccara, Arnaud Coez, Monica Zilbovicius, Yves Samson, Eric Bizaguet, IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Chirurgie otologique mini-invasive robotisée, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'oto-rhino-laryngologie, Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut Claude Bernard - Physiologie et Pathologie ((IFR_2)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Hospitalier Frédéric Joliot (SHFJ), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Hôpital Beaujon, Institut Claude Bernard - Physiologie et Pathologie, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Commissariat à l'Energie Atomique, Direction des Sciences du Vivant, Département de Recherche Médicale, Service Hospitalier Frédéric Joliot, Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière ( NEMESIS-CRICM ), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Hôpital Beaujon-Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)
Subjects: Adult, Male, medicine.medical_specialty, Profound deafness, Hearing loss, medicine.medical_treatment, Deafness, Audiology, Intelligibility (communication), Auditory cortex, Activation study, 03 medical and health sciences, 0302 clinical medicine, Oxygen Radioisotopes, Cochlear implant, medicine, otorhinolaryngologic diseases, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Radiology, Nuclear Medicine and imaging, 030223 otorhinolaryngology, Aged, Cerebral Cortex, Rehabilitation, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, business.industry, Water, Middle Aged, Control subjects, Temporal Lobe, Cochlear Implants, Acoustic Stimulation, Cerebrovascular Circulation, Positron-Emission Tomography, Speech Perception, Radiopharmaceuticals, medicine.symptom, business, Blood Flow Velocity, 030217 neurology & neurosurgery
Abstract: International audience; UNLABELLED: Cochlear implants may improve the medical and social prognosis of profound deafness. Nevertheless, some patients have experienced poor results without any clear explanations. One correlate may be an alteration in cortical voice processing. To test this hypothesis, we studied the activation of human temporal voice areas (TVA) using a well-standardized PET paradigm adapted from previous functional MRI (fMRI) studies. METHODS: A PET H(2)(15)O activation study was performed on 3 groups of adult volunteers: normal-hearing control subjects (n = 6) and cochlear-implanted postlingually deaf patients with >2 y of cochlear implant experience, with intelligibility scores in the "Lafon monosyllabic task" >80% (GOOD group; n = 6) or
Published: 2008

20. Umbilical cord arterial and venous gases, ionogram, and glucose level for predicting neonatal morbidity at term

Author: Louise Ghesquiere, Charles Garabedian, Thameur Rakza, Véronique Houfflin-Debarge, Laurent Storme, Valérie Deken, Roxane Vanspranghels, Patrice Maboudou, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Lille, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), and CCSD, Accord Elsevier
Subjects: medicine.medical_specialty, [SDV]Life Sciences [q-bio], Umbilical cord, Umbilical Cord, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Humans, Arterial pH, Gas analysis, Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Ionogram, Infant, Newborn, Area under the curve, Obstetrics and Gynecology, Retrospective cohort study, Hydrogen-Ion Concentration, Fetal Blood, 3. Good health, [SDV] Life Sciences [q-bio], Neonatal morbidity, Glucose, medicine.anatomical_structure, Reproductive Medicine, Cord blood, Cardiology, Gases, business
Abstract: Objective To determine which parameter of umbilical arterial cord gas analysis, pH, base deficit, lactate concentration, ionogram values, or glucose level index is the best predictor of neonatal morbidity at term. Design We conducted a 15-month retrospective cohort study that included all nonanomalous, singleton, term births at a single center. The predictive ability of lactate concentration, base deficit, pH, ionogram values, and glucose level were compared using receiver-operating characteristic curves for global and neurological composite morbidity. Optimal cutoff values for lactate concentration, base deficit, and pH were estimated based on their maximum area under the curve. Results We included 5161 newborns: 52 (1.01 %) had global composite morbidity, and 17 had (0.33 %) neurological composite morbidity. Blood levels of potassium, calcium, natremia, glucose level, and HCO3− did not differ significantly between groups. pH, partial pressure of CO2, partial pressure of O2, base deficit, and lactate levels differed significantly between neonates in the groups with and without global composite morbidity. Nearly similar results were found for neurological composite morbidity. The predictive ability did not differ between arterial pH and arterial lactate concentration (P = .25) and base deficit (P = .79). Optimal cutoff values to predict global composite morbidity were arterial pH 7.144, venous pH 7.236, and arterial lactate concentration 6.5 mmol/L. Conclusions Acid–base status analysis remains the best objective indicator for predicting neonatal morbidity and can be estimated using pH, lactate, or base deficit. Ionogram cord blood composition and glucose level do not appear to be useful for this purpose.
Published: 2020

21. Chronic smoking and cognition in patients with schizophrenia: A meta-analysis

Author: Bruno Romeo, Amine Benyamina, Catherine Martelli, Marine Brunet-Lecomte, Amélie Petillion, Nicolas Coustals, Hôpital Paul Brousse, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Digitéo, Université Paris-Saclay, CCSD, Accord Elsevier, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)
Subjects: [SDV]Life Sciences [q-bio], media_common.quotation_subject, Population, PsycINFO, Neuropsychological Tests, 03 medical and health sciences, Cognition, 0302 clinical medicine, Tobacco, mental disorders, medicine, Humans, education, Biological Psychiatry, media_common, education.field_of_study, business.industry, Addiction, Smoking, medicine.disease, 030227 psychiatry, [SDV] Life Sciences [q-bio], Meta-analysis, Psychiatry and Mental health, Memory, Short-Term, Schizophrenia, business, Neurocognitive, 030217 neurology & neurosurgery, Clinical psychology, Diagnosis of schizophrenia
Abstract: International audience; Background: Patients with schizophrenia display a very high rate of smoking in comparison with the general population. The aim of the present meta-analysis was to assess the association between cognitive performances and smoking status in patients with schizophrenia.Methods: This review was registered at PROSPERO, number CRD42019126758. After a systematic search on MEDLINE, PsycINFO, and clinicaltrials.gov databases, all studies measuring neurocognitive performances in both smoking and nonsmoking patients with a diagnosis of schizophrenia were included. Original data were extracted. Standardized mean differences (SMD) were calculated with the means and standard deviations extracted using a random-effect model. Cognitive performances were compared between smoking and nonsmoking patients with schizophrenia. Meta-regressions were performed to explore the influence of sociodemographic and clinical variables on SMD.Results: Eighteen studies were included in this meta-analysis. Chronic smoking in patients with schizophrenia, compared to nonsmoking, was associated with a significant more important impairment in attention (p = 0.02), working memory (p < 0.001), learning (p < 0.001), executive function (EF) reasoning/problem solving (p < 0.001) and speed of processing (p < 0.001), but not in delayed memory, EF abstraction/shifting, EF inhibition and language. The meta-regression analysis found that attention impairment could be influenced by age (p < 0.001) and Positive and Negative Syndrome Scale (PANSS) total score (p = 0.006).Conclusions: This meta-analysis provides strong evidence that, in patients with schizophrenia, chronic smoking is related to cognitive impairment. This association emphasizes the importance of paying careful attention to both tobacco addiction and cognitive functioning in patients with schizophrenia.
Published: 2020

22. Family history of alcohol use disorder is associated with brain structural and functional changes in healthy first-degree relatives

Author: Nicolas Hoertel, Guillaume Airagnes, Jean-Luc Martinot, Mehdi Rahim, François Guillon, Pauline Frère, Manon Dubol, Frédéric Limosin, Herve Lemaitre, Christophe Guerin-Langlois, Anne-Sophie Seigneurie, Eric Artiges, Irina Filippi, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de Psychiatrie et Neurosciences (U894), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Digitéo, Groupe Hospitalier Nord Essonne [Longjumeau], Vieillissement et Maladies chroniques : approches épidémiologique et de santé publique (VIMA), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cohortes épidémiologiques en population (CONSTANCES), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Université Paris Cité (UPCité), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut d'Imagerie BioMédicale (I2BM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut de psychiatrie et neurosciences (U894 / UMS 1266), and CCSD, Accord Elsevier
Subjects: Adult, Male, [SDV]Life Sciences [q-bio], Vulnerability, Alcohol use disorder, Grey matter, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Reward, Neuroimaging, medicine, Humans, Cingulum (brain), Family history, First-degree relatives, Brain Mapping, Monetary Incentive Delay task, business.industry, Confounding, Brain, Voxel-based morphometry, medicine.disease, Magnetic Resonance Imaging, Relatives, 030227 psychiatry, [SDV] Life Sciences [q-bio], Alcoholism, Psychiatry and Mental health, medicine.anatomical_structure, Female, Childhood Trauma Questionnaire, Nerve Net, business, Voxel-Based Morphometry, 030217 neurology & neurosurgery, Clinical psychology
Abstract: Background: Neuroimaging studies of vulnerability to Alcohol Use Disorder (AUD) have identified structural and functional variations which might reflect inheritable features in alcohol-naïve relatives of AUD individuals (FH+) compared to controls having no such family history (FH-). However, prior research did not simultaneously account for childhood maltreatment, any clinically significant disorder and maternal AUD. Therefore, we mainly aimed to investigate the brain structure and reward-related neural activations (fMRI), using whole-brain analysis in FH+ young adults with no prevalent confounders. Methods: 46 FH+ and 45 FH- male and female participants had no severe childhood maltreatment exposure, neither any psychiatric disorder or AUD, nor a prenatal exposure to maternal AUD. We used a 3 T MRI coupled with a whole brain voxel-based method to compare between groups the grey matter volumes and activations in response to big versus small wins during a Monetary Incentive Delay task. The Childhood Trauma Questionnaire score was used as confounding variable in the analyses to account for the remaining variance between groups. Results: Compared to FH- controls, FH+ participants had smaller grey matter volumes in the frontal and cingulate regions as well as in the bilateral nucleus accumbens and right insula. The FH+ participants’ fMRI datasets denoted a blunted activation in the middle cingulum with respect to FH- controls’ during the processing of reward magnitude, and a greater activation in the anterior cingulum in response to anticipation of a small win. Conclusions: Family history of alcohol use disorder is linked to structural and functional variations including brain regions involved in reward processes.
Published: 2019

23. MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

Author: Catherine Barthélémy, Marie Bourgeois, Anne Philipe, Nadia Bahi-Buisson, Laurence Laurier, Isabelle Desguerre, Marie-Christine Mouren, D. Seidenwurm, M. Zilbovicius, Laurence Robel, Francis Brunelle, Isabelle Meresse, Nathalie Boddaert, Yves Samson, Nadia Chabane, Arnold Munnich, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de radiologie pédiatrique [CHU Necker], Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière (NEMESIS-CRICM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Imagerie et cerveau, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), IFR de Neuroimagerie Fonctionnelle ( IFR 49 ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Neuroimagerie en psychiatrie ( U1000 ), Université Paris-Sud - Paris 11 ( UP11 ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université de Tours-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière ( NEMESIS-CRICM ), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), and Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 )
Subjects: Male, medicine.medical_specialty, Pediatrics, Neurology, Neurological Disorders/Developmental and Pediatric Neurology, Science, Fluid-attenuated inversion recovery, Brain mapping, 030218 nuclear medicine & medical imaging, Temporal lobe, 03 medical and health sciences, 0302 clinical medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, medicine, Humans, Clinical significance, Autistic Disorder, Child, Psychiatry, Demography, Brain Mapping, Pediatrics and Child Health/Child and Adolescent Psychiatry, Multidisciplinary, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, medicine.diagnostic_test, business.industry, Radiology and Medical Imaging/Magnetic Resonance Imaging, Magnetic resonance imaging, Syndrome, medicine.disease, Magnetic Resonance Imaging, Neurological Disorders/Neuroimaging, Temporal Lobe, 3. Good health, Autism spectrum disorder, Medicine, Autism, Female, business, 030217 neurology & neurosurgery, Research Article
Abstract: BackgroundThe clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences.MethodologyMRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4+/-3.6) was performed. All met the DSM-IV and ADI -R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0+/-4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable.Principal findingsMRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow-Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients).ConclusionsAn unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These results could contribute to further etiopathogenetic research into autism.
Published: 2009

24. Sex effects on structural maturation of the limbic system and outcomes on emotional regulation during adolescence

Author: Dimitri Papadopoulos Orfanos, Marie-Laure Paillère-Martinot, Uli Bromberg, Jani Penttilä, Betteke van Noort, Irina Filippi, Michael N. Smolka, Gunter Schumann, Hélène Vulser, Anna Cattrell, Ruben Miranda, Argyris Stringaris, Eric Artiges, Patricia J. Conrod, Veronika Ziesch, Yvonne Grimmer, Jean-Luc Martinot, Vincent Frouin, Jürgen Gallinat, Sarah Jurk, Eva Menningen, Pauline Frère, Herve Lemaitre, Henrik Walter, Nora C. Vetter, Adolescent psychopathology and Medicine, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Departamento de Fisica de la Materia Condensada [Madrid] (FMC), Facultad de Ciencas [Madrid], Universidad Autónoma de Madrid (UAM)-Universidad Autónoma de Madrid (UAM), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Department of Psychiatry and Psychotherapy [Berlin], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Imagerie Cerebrale en Psychiatrie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), HYKS erva, Päijät-Häme Welfare Consortium, CHU Cochin [AP-HP], Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Departamento de Física de la Materia Condensada, Universidad Autonoma de Madrid (UAM), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, and Universidad Autonoma de Madrid (UAM)-Universidad Autonoma de Madrid (UAM)
Subjects: Male, CHILDHOOD, DEVELOPMENTAL TRAJECTORIES, 3124 Neurology and psychiatry, Developmental psychology, 0302 clinical medicine, Limbic system, Limbic System, Longitudinal Studies, Prefrontal cortex, Depression (differential diagnoses), ComputingMilieux_MISCELLANEOUS, Sex Characteristics, 05 social sciences, Brain maturation, WHITE-MATTER DEVELOPMENT, DEPRESSION, Adolescence, medicine.anatomical_structure, Diffusion tensor imaging, Neurology, Female, STRENGTHS, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Psychology, BRAIN-DEVELOPMENT, Adolescent, 515 Psychology, Cognitive Neuroscience, Prefrontal Cortex, Amygdala, 050105 experimental psychology, lcsh:RC321-571, 03 medical and health sciences, AGE, medicine, Humans, 0501 psychology and cognitive sciences, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Sexual differentiation, [SCCO.NEUR]Cognitive science/Neuroscience, Puberty, 3112 Neurosciences, Emotional regulation, PUBERTAL CHANGES, T1-weigthed imaging, Adolescent Development, INTERNALIZING SYMPTOMS, Sex difference, Emotional Regulation, Sexual dimorphism, DIMORPHISM, Longitudinal, 030217 neurology & neurosurgery
Abstract: Though adolescence is a time of emerging sex differences in emotions, sex-related differences in the anatomy of the maturing brain has been under-explored over this period. The aim of this study was to investigate whether puberty and sexual differentiation in brain maturation could explain emotional differences between girls and boys during adolescence. We adapted a dedicated longitudinal pipeline to process structural and diffusion images from 335 typically developing adolescents between 14 and 16 years. We used voxel-based and Regions of Interest approaches to explore sex and puberty effects on brain and behavioral changes during adolescence. Sexual differences in brain maturation were characterized by amygdala and hippocampal volume increase in boys and decrease in girls. These changes were mediating the sexual differences in positive emotional regulation as illustrated by positive attributes increase in boys and decrease in girls. Moreover, the differential maturation rates between the limbic system and the prefrontal cortex highlighted the delayed maturation in boys compared to girls. This is the first study to show the sex effects on the differential cortico/subcortical maturation rates and the interaction between sex and puberty in the limbic system maturation related to positive attributes, reported as being protective from emotional disorders.
Published: 2020

25. Cannabis-Associated Psychotic-like Experiences Are Mediated by Developmental Changes in the Parahippocampal Gyrus

Author: Tao Yu, Tianye Jia, Liping Zhu, Sylvane Desrivières, Christine Macare, Yan Bi, Arun L.W. Bokde, Erin Burke Quinlan, Andreas Heinz, Bernd Ittermann, ChuanXin Liu, Lei Ji, Tobias Banaschewski, Decheng Ren, Li Du, Binyin Hou, Herta Flor, Vincent Frouin, Hugh Garavan, Penny Gowland, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Frauke Nees, Dimitri Papadopoulos Orfanos, Qiang Luo, Congying Chu, Tomas Paus, Luise Poustka, Sarah Hohmann, Sabina Millenet, Michael N. Smolka, Nora C. Vetter, Eva Mennigen, Cai Lei, Henrik Walter, Juliane H. Fröhner, Robert Whelan, Guang He, Lin He, Gunter Schumann, Gabriel Robert, Michael Rapp, Eric Artiges, Sophia Schneider, Christine Bach, Alexis Barbot, Gareth Barker, Arun Bokde, Nora Vetter, Christian Büchel, Anna Cattrell, Patrick Constant, Hans Crombag, Katharina Czech, Jeffrey Dalley, Benjamin Decideur, Tade Spranger, Tamzin Ripley, Nadja Heym, Wolfgang Sommer, Birgit Fuchs, Jürgen Gallinat, Rainer Spanagel, Mehri Kaviani, Bert Heinrichs, Naresh Subramaniam, Albrecht Ihlenfeld, James Ireland Delosis, Patricia Conrod, Jennifer Jones, Arno Klaassen, Christophe Lalanne, Dirk Lanzerath, Claire Lawrence, Hervé Lemaitre, Sylvane Desrivieres, Catherine Mallik, Karl Mann, Adam Mar, Lourdes Martinez-Medina, Fabiana Mesquita de Carvahlo, Yannick Schwartz, Ruediger Bruehl, Kathrin Müller, Charlotte Nymberg, Mark Lathrop, Trevor Robbins, Zdenka Pausova, Jani Pentilla, Francesca Biondo, Jean-Baptiste Poline, Michael Smolka, Juliane Fröhner, Maren Struve, Steve Williams, Thomas Hübner, Uli Bromberg, Semiha Aydin, John Rogers, Alexander Romanowski, Christine Schmäl, Dirk Schmidt, Stephan Ripke, Mercedes Arroyo, Florian Schubert, Yolanda Pena-Oliver, Mira Fauth-Bühler, Xavier Mignon, Claudia Speiser, Tahmine Fadai, Dai Stephens, Andreas Ströhle, Marie-Laure Paillere, Nicole Strache, David Theobald, Sarah Jurk, Helene Vulser, Ruben Miranda, Juliana Yacubilin, Alexander Genauck, Caroline Parchetka, Isabel Gemmeke, Johann Kruschwitz, Katharina WeiB, Jianfeng Feng, Dimitri Papadopoulos, Irina Filippi, Alex Ing, Barbara Ruggeri, Bing Xu, Eanna Hanratty, Veronika Ziesch, Alicia Stedman, King‘s College London, Shanghai Jiao Tong University [Shanghai], Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Ecole des Neurosciences de Paris Île de France (ENP), Ecole des Neurosciences de Paris, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes], Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes = Institute of Clinical Neurosciences of Rennes (INCR), 2017YFC0909200, National Basic Research Program of China (973 Program), SZSM201406007, Sanming Project of Medicine in Shenzhen, Medical Research Council, National Institute for Health Research, National Institutes of Health, 16JXRZ01, Central Universities, Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Institut des Neurosciences Cliniques de Rennes (INCR)-CHU Pontchaillou [Rennes]-Université européenne de Bretagne - European University of Brittany (UEB)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: cannabis, Mediation (statistics), Marijuana Abuse, psychotic-like experiences (PLEs), Adolescent, Population, Hippocampus, deformation-based morphometry, uncus, Risk Factors, Surveys and Questionnaires, Developmental and Educational Psychology, medicine, Humans, 0501 psychology and cognitive sciences, paired designed MRI, Risk factor, education, education.field_of_study, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, biology, business.industry, 05 social sciences, medicine.disease, biology.organism_classification, Uncus, Psychiatry and Mental health, medicine.anatomical_structure, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Psychotic Disorders, Schizophrenia, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Parahippocampal Gyrus, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Cannabis, business, Parahippocampal gyrus, 050104 developmental & child psychology, Clinical psychology
Abstract: International audience; Objective: Cannabis consumption during adolescence has been reported as a risk factor for psychotic-like experiences (PLEs) and schizophrenia. However, brain developmental processes associated with cannabis-related PLEs are still poorly described.Method: A total of 706 adolescents from the general population who were recruited by the IMAGEN consortium had structural magnetic resonance imaging scans at both 14 and 19 years of age. We used deformation-based morphometry to map voxelwise brain changes between the two time points, using the pairwise algorithm in SPM12b. We used an a priori region-of-interest approach focusing on the hippocampus/parahippocampus to perform voxelwise linear regressions. Lifetime cannabis consumption was assessed using the European School Survey Project on Alcohol and other Drugs (ESPAD), and PLEs were assessed with the Comprehensive Assessment Psychotic-like experiences (CAPE) tool. We first tested whether hippocampus/parahippocampus development was associated with PLEs. Then we formulated and tested an a priori simple mediation model in which uncus development mediates the association between lifetime cannabis consumption and PLEs.Results: We found that PLEs were associated with reduced expansion within a specific region of the right hippocampus/parahippocampus formation, the uncus (p = .002 at the cluster level, p = .018 at the peak level). The partial simple mediation model revealed a significant total effect from lifetime cannabis consumption to PLEs (b = 0.069, 95% CI = 0.04−0.1, p =2 × 10−16), as well as a small yet significant, indirect effect of right uncus development (0.004; 95% CI = 0.0004−0.01, p = .026).Conclusion: We show here that the uncus development is involved in the cerebral basis of PLEs in a population-based sample of healthy adolescents
Published: 2020

26. Association of Gray Matter and Personality Development With Increased Drunkenness Frequency During Adolescence

Author: Ted Barker, Robert Whelan, Philip A. Spechler, Alex Ing, Luise Poustka, Gunter Schumann, Qiang Luo, Tao Yu, Penny A. Gowland, Michael N. Smolka, Patricia J. Conrod, Bader Chaarani, Vincent Frouin, Marie-Laure Paillère Martinot, Congying Chu, Frauke Nees, Herta Flor, Nicole Tay, Andreas Heinz, Nora C. Vetter, Tianye Jia, Bernd Ittermann, Henrik Walter, Hugh Garavan, Gabriel Robert, Tobias Banaschewski, Barbara Ruggeri, Uli Bromberg, Erin Burke-Quinlan, Dimitri Papadopoulos Orfanos, Jean-Luc Martinot, Sylvane Desrivières, Arun L.W. Bokde, King‘s College London, Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes], Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes = Institute of Clinical Neurosciences of Rennes (INCR), Neuroimagerie: méthodes et applications (Empenn), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Fudan University [Shanghai], Shanghai Jiao Tong University [Shanghai], Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), University of Vermont [Burlington], University Hospital Mannheim | Universitätsmedizin Mannheim, Trinity College Dublin, Heidelberg University Hospital [Heidelberg], University of Nottingham, UK (UON), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Physikalisch-Technische Bundesanstalt [Braunschweig] (PTB), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maison de Solenn [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Mannheim, Medizinische Universität Wien = Medical University of Vienna, Technische Universität Dresden = Dresden University of Technology (TU Dresden), University College Dublin [Dublin] (UCD), Université de Montréal (UdeM), CHU Pontchaillou [Rennes]-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-Institut des Neurosciences Cliniques de Rennes (INCR), Empenn, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Medical Faculty [Mannheim], University of Mannheim, Jonchère, Laurent, and Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR)
Subjects: Male, Adolescent, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Binge drinking, Alcohol abuse, Impulsivity, Young Adult, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Atrophy, Risk Factors, medicine, Humans, Gray Matter, Original Investigation, Temporal cortex, Cerebral atrophy, Latent growth modeling, business.industry, Adolescent Development, medicine.disease, Temporal Lobe, Frontal Lobe, 030227 psychiatry, Psychiatry and Mental health, Personality Development, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Impulsive Behavior, Female, medicine.symptom, business, Alcoholic Intoxication, 030217 neurology & neurosurgery, Demography, Cohort study
Abstract: International audience; Importance - Alcohol abuse correlates with gray matter development in adolescents, but the directionality of this association remains unknown. Objective - To investigate the directionality of the association between gray matter development and increase in frequency of drunkenness among adolescents. Design, setting, and participants - This cohort study analyzed participants of IMAGEN, a multicenter brain imaging study of healthy adolescents in 8 European sites in Germany (Mannheim, Dresden, Berlin, and Hamburg), the United Kingdom (London and Nottingham), Ireland (Dublin), and France (Paris). Data from the second follow-up used in the present study were acquired from January 1, 2013, to December 31, 2016, and these data were analyzed from January 1, 2016, to March 31, 2018. Analyses were controlled for sex, site, socioeconomic status, family history of alcohol dependency, puberty score, negative life events, personality, cognition, and polygenic risk scores. Personality and frequency of drunkenness were assessed at age 14 years (baseline), 16 years (first follow-up), and 19 years (second follow-up). Structural brain imaging scans were acquired at baseline and second follow-up time points. Main outcomes and measures - Increases in drunkenness frequency were measured by latent growth modeling, a voxelwise hierarchical linear model was used to observe gray matter volume, and tensor-based morphometry was used for gray matter development. The hypotheses were formulated before the data analyses. Results - A total of 726 adolescents (mean [SD] age at baseline, 14.4 [0.38] years; 418 [58%] female) were included. The increase in drunkenness frequency was associated with accelerated gray matter atrophy in the left posterior temporal cortex (peak: t1,710 = -5.8; familywise error (FWE)-corrected P = 7.2 × 10-5; cluster: 6297 voxels; P = 2.7 × 10-5), right posterior temporal cortex (cluster: 2070 voxels; FWE-corrected P = .01), and left prefrontal cortex (peak: t1,710 = -5.2; FWE-corrected P = 2 × 10-3; cluster: 10 624 voxels; P = 1.9 × 10-7). According to causal bayesian network analyses, 73% of the networks showed directionality from gray matter development to drunkenness increase as confirmed by accelerated gray matter atrophy in late bingers compared with sober controls (n = 20 vs 60; β = 1.25; 95% CI, -2.15 to -0.46; t1,70 = 0.3; P = .004), the association of drunkenness increase with gray matter volume at age 14 years (β = 0.23; 95% CI, 0.01-0.46; t1,584 = 2; P = .04), the association between gray matter atrophy and alcohol drinking units (β = -0.0033; 95% CI, -6 × 10-3 to -5 × 10-4; t1,509 = -2.4; P = .02) and drunkenness frequency at age 23 years (β = -0.16; 95% CI, -0.28 to -0.03; t1,533 = -2.5; P = .01), and the linear exposure-response curve stratified by gray matter atrophy and not by increase in frequency of drunkenness. Conclusions and relevance - This study found that gray matter development and impulsivity were associated with increased frequency of drunkenness by sex. These results suggest that neurotoxicity-related gray matter atrophy should be interpreted with caution.
Published: 2020

27. Lower midbrain dopamine transporter availability in depressed patients: Report from high-resolution PET imaging

Author: Claire Leroy, Jean-Luc Martinot, Bernard Granger, Manon Dubol, Christian Trichard, Eleni T. Tzavara, Eric Artiges, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie Moléculaire in Vivo (IMIV - U1023 - ERL9218), Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CCSD, Accord Elsevier, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurosciences Paris Seine (NPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, [SDV]Life Sciences [q-bio], Substantia nigra, Neuroimaging, Striatum, Statistical parametric mapping, Midbrain, 03 medical and health sciences, 0302 clinical medicine, Mesencephalon, Dopamine, medicine, Humans, Dopamine transporter, Depressive Disorder, Major, Dopamine Plasma Membrane Transport Proteins, biology, business.industry, Depression, Putamen, DAT, Middle Aged, Corpus Striatum, Molecular Imaging, 030227 psychiatry, Substantia Nigra, Ventral tegmental area, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Clinical Psychology, medicine.anatomical_structure, PET, nervous system, Positron-Emission Tomography, biology.protein, Female, business, Neuroscience, 030217 neurology & neurosurgery, medicine.drug
Abstract: Background A reduced presynaptic dopamine neurotransmission has long been implicated in major depressive disorder (MDD). However, molecular imaging studies that assessed the dopamine transporter (DAT) availability have led to inconsistent results, partly due to methodological considerations, and to exclusive focus on the striatum, precluding findings in extra-striatal regions. Methods Herein, we leveraged our database of high-resolution Positron Emission Tomography (PET) images acquired with a highly selective radiotracer, [11C]PE2I, to assess striatal and extra-striatal DAT availability in eight patients treated for depression compared to twenty-four healthy controls. Results Statistical parametric mapping and voxel-based analyses of PET images detected a significant lower DAT availability in depressed patients within the superior part of the midbrain (right, pFWE = 0.002; left, pFWE = 0.006), a region including the ventral tegmental area and the substantia nigra from where the mesocorticolimbic and nigrostriatal dopamine pathways originate. A similar difference was found in the right dorsal putamen (pFWE = 0.012). Limitations The statistical power was limited to detect only large effects, due to the size of the patients’ sample. Conclusions The findings support the hypothesis that a reduced presynaptic dopamine function plays a role in the pathophysiology of depression, and that extra-striatal dopamine function should be further investigated.
Published: 2020

28. Magnetic resonance spectroscopy studies in subjects with high risk for psychosis: A meta-analysis and review

Author: Amélie Petillion, Amine Benyamina, Bruno Romeo, Catherine Martelli, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Hôpital Paul Brousse, Université Paris-Sud - Paris 11 (UP11), Université Paris-Saclay, Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Digitéo, and CCSD, Accord Elsevier
Subjects: Oncology, medicine.medical_specialty, Psychosis, Clinical variables, Magnetic Resonance Spectroscopy, [SDV]Life Sciences [q-bio], Glutamine, Proton Magnetic Resonance Spectroscopy, Glutamic Acid, 03 medical and health sciences, 0302 clinical medicine, Brain metabolites levels, Internal medicine, medicine, Humans, Prefrontal cortex, Biological Psychiatry, Aspartic Acid, business.industry, medicine.disease, High risk subjects, 030227 psychiatry, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Psychotic Disorders, Schizophrenia, Meta-analysis, Female, business, 030217 neurology & neurosurgery, Metabolic profile
Abstract: International audience; Introduction: Even though anomalies on brain metabolites have been found in schizophrenia, researches about subjects with high risk (HR) show heterogeneous results. Thus, this meta-analysis aims to characterize the metabolic profile of HR subjects, first, compared to controls (HC) and then compared to people with schizophrenia.Methods: After a systematic database search, means and standard deviations were extracted to calculate standardized mean differences (SMD). Cerebral metabolites levels were compared between HR subjects and HC or patients with schizophrenia in all regions of interest investigated in included studies. Meta-regressions were performed to explore the influence of demographic and clinical variables on metabolites level's SMDs.Results: Thirty-nine studies were included in this meta-analysis. A higher level of glutamine + glutamate (Glx) was found in the medial prefrontal cortex (mPFC) (p < 0.01) and potentially in the basal ganglia (p = 0,05) as well as a higher level of myo-inositol (mI) in the dorsolateral prefrontal cortex (DLPFC) (p = 0.04) in HR subjects compared to HC. A higher level of choline (Cho) was found in people with schizophrenia compared to HR subjects in the DLPFC (p < 0.001) and the medial temporal lobe (p = 0.02). Meta-regression analyses showed negative associations between SMD for Cho concentration, the percentage of females or the age (p = 0.01).Conclusions: The present meta-analysis provides evidence that some brain metabolites concentrations are disrupted before the transition to psychosis and could be considered like a vulnerability.
Published: 2019

29. EANO–EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma

Author: Martin J. van den Bent, Benedikt Wiestler, Didier Frappaz, Florence Laigle-Donadey, Matthias Preusser, Stephanie E. Combs, Walter Stummer, Elke Hattingen, Dagmar Beier, Michael A. Grotzer, Clemens Seidel, Felice Giangaspero, Nathalie Boddaert, Peter Hau, Michael Weller, Kristian W. Pajtler, Steven C. Clifford, Ahmed Idbaih, Alba A. Brandes, Enrico Franceschi, Ana Guerreiro Stucklin, Rolf-Dieter Kortmann, Volodia Dangouloff-Ros, Jacoline E C Bromberg, Martin G. McCabe, Stefan M. Pfister, Silvia Hofer, Torsten Pietsch, Dominique Figarella-Branger, Raphael Guzman, Christine Haberler, Department of Medical Oncology (AUSL di Bologna), Azienda Unità Sanitaria Locale di Bologna (AUSL), Luzerner Kantonsspital, Surgical oncology Centre Léon Bérard, Centre Léon Bérard [Lyon], Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU), Service d’Anatomie Pathologique et de Neuropathologie, APHM, Hôpital de la Timone, Hôpital de la Timone [CHU - APHM] (TIMONE), Pédiatrie et oncologie pédiatrique [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Departments of Neurosurgery and Biomedicine, University Hospital Basel [Basel], University of Manchester [Manchester], University hospital of Zurich [Zurich], Biologie des Interactions Neurones / Glie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Neurology, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Adult, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], MEDLINE, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, medicine, Post-pubertal, Humans, Cerebellar Neoplasms, Intensive care medicine, ComputingMilieux_MISCELLANEOUS, Medulloblastoma, Adult patients, business.industry, Puberty, Guideline, medicine.disease, European Association of Neuro-Oncology (EANO), EUropean RAre CANcer (EURACAN), guideline, medulloblastoma, post-pubertal, adult, 3. Good health, Europe, Clinical Practice, Oncology, Diagnosis treatment, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: The European Association of Neuro-Oncology (EANO) and EUropean RAre CANcer (EURACAN) guideline provides recommendations for the diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma. The guideline is based on the 2016 WHO classification of tumours of the CNS and on scientific developments published since 1980. It aims to provide direction for diagnostic and management decisions, and for limiting unnecessary treatments and cost. In view of the scarcity of data in adults with medulloblastoma, we base our recommendations on adult data when possible, but also include recommendations derived from paediatric data if justified. Our recommendations are a resource for professionals involved in the management of post-pubertal and adult patients with medulloblastoma, for patients and caregivers, and for health-care providers in Europe. The implementation of this guideline requires multidisciplinary structures of care, and defined processes of diagnosis and treatment.
Published: 2019

30. New synthetic opioids: Part of a new addiction landscape

Author: Boris Chaumette, Joël Billieux, Laurent Karila, Amine Benyamina, Maude Marillier, Nicolas Franchitto, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Paul Brousse, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), McGill University = Université McGill [Montréal, Canada], University of Luxembourg [Luxembourg], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), and CCSD, Accord Elsevier
Subjects: medicine.medical_specialty, Drug-Related Side Effects and Adverse Reactions, Substance-Related Disorders, Synthetic Drugs, Cognitive Neuroscience, media_common.quotation_subject, [SDV]Life Sciences [q-bio], Somatic complications, Population, Behavioral Symptoms, Substance use disorder, Heroin, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, medicine, Humans, 030216 legal & forensic medicine, 030212 general & internal medicine, Psychiatry, Adverse effect, education, media_common, education.field_of_study, Adverse effects, Public health, Addiction, AH-7921, MT-45, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Substance abuse, Analgesics, Opioid, Fentanyl, Neuropsychology and Physiological Psychology, New psychoactive substances, Opioid, Psychiatric complications, U-47700, Synthetic opioids, Business, Fatalities, medicine.drug
Abstract: International audience; Synthetic opioids (SO) are a major risk for public health across the world. These drugs can be divided into 2 categories, pharmaceutical and non-pharmaceutical fentanyls. A new generation of SO has emerged on the drug market since 2010. North America is currently facing an opioid epidemic of morbi-mortality, caused by over-prescription of opioids, illegally diverted prescribed medicines, the increasing use of heroin and the emergence of SO. Furthermore, this opioid crisis is also seen in Europe. SO are new psychoactive substances characterized by different feature such as easy availability on the Internet, low price, purity, legality, and lack of detection in laboratory tests. They have not been approved or are not recommended for human use. Opioid misuse is associated with somatic and psychiatric complications. For many substances, limited pharmacological information is available, increasing the risk of harmful adverse events. Health actors and the general population need to be clearly informed of the potential risks and consequences of the diffusion and use of SO.
Published: 2019

31. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Author: Giulia Barcia, Laurence Hubert, Emily Fassi, Julien Thevenon, Laurence Faivre, Philippe Lory, Daniel Medina-Cano, Pierre Blanc, Nathalie Boddaert, Nami Altin, Karine Siquier-Pernet, Marlène Rio, Céline Vidal, Jean Chemin, Sylvain Hanein, Holly H. Zimmerman, Marwan Shinawi, Patrick Nitschke, Vincent Cantagrel, Cécile Fourage, Nadia Bahi-Buisson, Christine Bole-Feysot, Jeanne Amiel, Ali Ahmad, Arnold Munnich, Michael Nicouleau, Stanislas Lyonnet, Laurence Colleaux, Isabelle Desguerre, Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Plateforme de génomique [SFR Necker], Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Plate Forme Paris Descartes de Bioinformatique (BIP-D), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de neurologie pédiatrique [CHU Necker], Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Radiologie et imagerie médicale [CHU Necker], Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, ANR-16-CE12-0005,SCD-Mec,Mécanismes développementaux des anomalies structurelles cérébelleuses(2016), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, 0301 basic medicine, Microcephaly, [SDV]Life Sciences [q-bio], Developmental Disabilities, medicine.disease_cause, Deep cerebellar nuclei, Cohort Studies, Calcium Channels, T-Type, Purkinje Cells, Epilepsy, 0302 clinical medicine, Cerebellum, Child, Exome sequencing, Mutation, Brain, Phenotype, Pedigree, Child, Preschool, Gain of Function Mutation, CACNA1G, Female, Cerebellar atrophy, medicine.symptom, voltage-gated calcium channel, Adult, medicine.medical_specialty, Adolescent, Cerebellar Ataxia, Biology, 03 medical and health sciences, cerebellar atrophy, Cerebellar Diseases, Intellectual Disability, Internal medicine, medicine, Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, Cerebellar ataxia, medicine.disease, de novo mutation, 030104 developmental biology, Endocrinology, Calcium, Calcium Channels, Neurology (clinical), Atrophy, Cav3.1, 030217 neurology & neurosurgery
Abstract: IF 10.848; International audience; Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically described as mostly autosomal recessive conditions and the exact contribution of de novo mutations to this phenotype has not been assessed. In contrast, recent studies pinpoint the high prevalence of pathogenic de novo mutations in other developmental disorders such as intellectual disability, autism spectrum disorders and epilepsy. Here, we investigated a cohort of 47 patients with early onset cerebellar atrophy and/or hypoplasia using a custom gene panel as well as whole exome sequencing. De novo mutations were identified in 35% of patients while 27% had mutations inherited in an autosomal recessive manner. Understanding if these de novo events act through a loss or a gain of function effect is critical for treatment considerations. To gain a better insight into the disease mechanisms causing these cerebellar defects, we focused on CACNA1G, a gene not yet associated with the early-onset form. This gene encodes the Cav3.1 subunit of T-type calcium channels highly expressed in Purkinje neurons and deep cerebellar nuclei. We identified four patients with de novo CACNA1G mutations. They all display severe motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. Three subjects share a recurrent c.2881G>A/p.Ala961Thr variant while the fourth patient has the c.4591A>G/p.Met1531Val variant. Both mutations drastically impaired channel inactivation properties with significantly slower kinetics (∼5 times) and negatively shifted potential for half-inactivation (>10 mV). In addition, these two mutations increase neuronal firing in a cerebellar nuclear neuron model and promote a larger window current fully inhibited by TTA-P2, a selective T-type channel blocker. This study highlights the prevalence of de novo mutations in early-onset cerebellar atrophy and demonstrates that A961T and M1531V are gain of function mutations. Moreover, it reveals that aberrant activity of Cav3.1 channels can markedly alter brain development and suggests that this condition could be amenable to treatment.
Published: 2018

32. Failure of rechallenge clozapine after agranulocytosis: A case report

Author: A Petillion, Bruno Romeo, Amine Benyamina, Catherine Martelli, Santé mentale et santé publique (SMSP - U1178), Université Paris-Sud - Paris 11 (UP11)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)
Subjects: Adult, Male, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Drug Resistance, 03 medical and health sciences, 0302 clinical medicine, Arts and Humanities (miscellaneous), medicine, Humans, Adverse effect, Clozapine, Schizophrenia, Paranoid, Drug Substitution, business.industry, Valproic Acid, Drug Synergism, Clopenthixol, Dermatology, 3. Good health, 030227 psychiatry, Psychiatry and Mental health, Olanzapine, Drug Therapy, Combination, business, Agranulocytosis, Antipsychotic Agents, medicine.drug
Abstract: L'Encephale - Sous presse. Epreuves corrigees par l'auteur. Disponible en ligne depuis le jeudi 14 mars 2019
Published: 2019

33. Heritability of the language network using resting state fMRI data

Author: Mekki, Yasmina, Philippe, Cathy, Guillemot, Vincent, Lemaître, Hervé, Frouin, Vincent, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: [SCCO]Cognitive science, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV]Life Sciences [q-bio], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Abstract: International audience; Background: Language is a singularity of the human species. It is expected to have a genetic constituent. Estimation of the part of variance attributable to genetic variation across subjects in functional brain imaging within the regions of the language, provide us a quantification of the genetic influence. This part of variance -which corresponds to heritability- is important to prioritize the structural and functional brain features. Language specific tasks fMRI are generally used to achieve this decomposition of variance, but resting state fMRI remains also a valid alternative. Indeed, a growing evidence suggest that resting state functional connectivity pattern could be identified during cognitive task activation. UK Biobank with 19,336 subjects that underwent a rsfMRI, as well as Human Connectome Project (HCP) with 1113 subjects are a unique opportunity to study such a question.Methods: The present work consists in estimating the heritability of the language network, using region of interest, identified by (Pallier, 2011) during a task fMRI experience, based on resting state fMRI connectivity analysis. Imaging genetics data for both cohorts underwent a stringent quality control protocol, yielding 18,851 and 739 samples for UKB and HCP respectively.Results: Significant heritability, estimated via GCTA for UKB and SOLAR for HCP, were observed (UKB: h²=10%-14%, HCP: h²=22%-43%). Multiple test were corrected with Bonferroni correction.Conclusions: The obtained results suggest some genetic influence on the phenotype chosen which indicates that the human language brain organization is under relatively strong genetic control, strong enough to consider association studies with genotyping data.
Published: 2019

34. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Author: Arrondel, Christelle, Missoury, Sophia, Snoek, Rozemarijn, Patat, Julie, Menara, Giulia, Collinet, Bruno, Liger, Dominique, Durand, Dominique, Gribouval, Olivier, Boyer, Olivia, Buscara, Laurine, Martin, Gaëlle, Machuca, Eduardo, Nevo, Fabien, Lescop, Ewen, Braun, Daniela A., Boschat, Anne-Claire, Sanquer, Sylvia, Guerrera, Ida Chiara, Revy, Patrick, Parisot, Mélanie, Masson, Cécile, Boddaert, Nathalie, Charbit, Marina, Decramer, Stéphane, Novo, Robert, Macher, Marie-Alice, Ranchin, Bruno, Bacchetta, Justine, Laurent, Audrey, Collardeau-Frachon, Sophie, van Eerde, Albertien M., Hildebrandt, Friedhelm, Magen, Daniella, Antignac, Corinne, van Tilbeurgh, Herman, Mollet, Géraldine, Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Molecular bases of hereditary kidney diseases: nephronophthisis and hypodysplasia (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Center for Molecular medicine [Utrecht], University Medical Center [Utrecht], Department of Genetics [Utrecht, the Netherlands], Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement [IRD] : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Chimie des Substances Naturelles (ICSN), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Department of Medicine [Boston, MA, USA], Harvard Medical School [Boston] (HMS)-Boston Children's Hospital, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de biochimie métabolique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Toxicité environnementale, cibles thérapeutiques, signalisation cellulaire (T3S - UMR_S 1124), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme Protéomique Necker [SFR Necker] (PPN - 3P5), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Genome dynamics in the immune system (Equipe Inserm U1163), Plateforme de génomique [SFR Necker], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Unité Néphrologie Pédiatrique [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Néphrologie pédiatrique [Hôpital Robert Debré, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Service de Pathologie [Hôpital Femme-Mère-Enfant, HCL], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Division of Nephrology [Boston, MA, USA] (Department of Medicine), Boston Children's Hospital, Pediatric Nephrology Institute [Haifa, Israel], Rambam Health Care Campus [Haifa, Israel]-Technion Faculty of Medicine [Haifa, Israel], Service de Génétique Médicale [CHU Necker], This work was supported by the Fondation pour le Recherche Médicale (project DEQ2015031682) (to C. Antignac), the European Union’s Seventh Framework Programme (FP7/2012, grant 305608 EURenOmics) (to C. Antignac), the Investments for the Future Program (grant ANR-10-IAHY-01) (to C. Antignac), ANR KeoGamo (ANR-18-CE11-0008-01) (to G. Mollet and H.v.T.). This work was supported by the French Infrastructure for Integrated Structural Biology (FRISBI) (ANR-10-INSB-05–01) (to H.v.T.) and the Dutch Kidney Foundation (grant 15OP14) (to A.M.v.E.). S.M. is supported by a Ph.D. grant of the Fondation pour le Recherche Médicale (FRM). P.R. is a scientist from Centre National de la Recherche Scientifique (CNRS)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-18-CE11-0008,KeoGamo,Caractérisation fonctionnelle du complexe KEOPS et son implication dans le syndrome de Galloway-Mowat(2018), ANR-10-INBS-0005,FRISBI,Infrastructure Française pour la Biologie Structurale Intégrée(2010), European Project: 305608,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,EURENOMICS(2012), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Gribouval, Olivier, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, APPEL À PROJETS GÉNÉRIQUE 2018 - Caractérisation fonctionnelle du complexe KEOPS et son implication dans le syndrome de Galloway-Mowat - - KeoGamo2018 - ANR-18-CE11-0008 - AAPG2018 - VALID, Infrastructure Française pour la Biologie Structurale Intégrée - - FRISBI2010 - ANR-10-INBS-0005 - INBS - VALID, and European Consortium for High-Throughput Research in Rare Kidney Diseases - EURENOMICS - - EC:FP7:HEALTH2012-10-01 - 2017-09-30 - 305608 - VALID
Subjects: Male, Adenosine, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.GEN] Life Sciences [q-bio]/Genetics, Nephrosis/genetics, Microcephaly/genetics, RNA, Transfer, MESH: Child, lcsh:Science, Child, MESH: Intrinsically Disordered Proteins, Research Support, Non-U.S. Gov't, Medical genetics, Nuclear Proteins, RNA-Binding Proteins, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, MESH: Nephrosis, Microcephaly, Nephrosis, Intrinsically Disordered Proteins/genetics, Female, Multiprotein Complexes/chemistry, RNA, Transfer/genetics, RNA-Binding Proteins/chemistry, MESH: Mutation, MESH: GTP-Binding Proteins, Science, Nuclear Proteins/chemistry, MESH: Microcephaly, Article, MESH: Hernia, Hiatal, GTP-Binding Proteins, Hernia, Hiatal/genetics, GTP-Binding Proteins/chemistry, Journal Article, Humans, X-ray crystallography, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Multiprotein Complexes, MESH: Adenosine, MESH: RNA, Transfer, RNA modification, MESH: Male, tRNAs, Intrinsically Disordered Proteins, MESH: RNA-Binding Proteins, Hernia, Hiatal, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Multiprotein Complexes, Mutation, lcsh:Q, Adenosine/analogs & derivatives, MESH: Nuclear Proteins, MESH: Female
Abstract: N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t6A) is a universal modification essential for translational accuracy and efficiency. The t6A pathway uses two sequentially acting enzymes, YRDC and OSGEP, the latter being a subunit of the multiprotein KEOPS complex. We recently identified mutations in genes encoding four out of the five KEOPS subunits in children with Galloway-Mowat syndrome (GAMOS), a clinically heterogeneous autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Here we show that mutations in YRDC cause an extremely severe form of GAMOS whereas mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of the disease. The crystal structure of the GON7/LAGE3/OSGEP subcomplex shows that the intrinsically disordered GON7 protein becomes partially structured upon binding to LAGE3. The structure and cellular characterization of GON7 suggest its involvement in the cellular stability and quaternary arrangement of the KEOPS complex., The biosynthesis of N6-threonylcarbamoylated adenosine 37 in tRNA (t6A) involves the YRDC enzyme and the KEOPS complex. Here, the authors report mutations in YRDC and the KEOPS component GON7 in Galloway-Mowat syndrome and determine the crystal structure of a GON7-containg subcomplex that suggests a role in KEOPS complex stability.
Published: 2019

35. Psychiatric symptoms and quality of life in older adults with schizophrenia spectrum disorder: results from a multicenter study

Author: Bulteau, Samuel, Guirette, Charline, Brunelin, Jérôme, Poulet, Emmanuel, Trojak, Benoit, Richieri, Raphaëlle, Szekely, David, Bennabi, Djamila, Yrondi, Antoine, Rotharmel, Maud, Bougerol, Thierry, Dall’igna, Gaëlle, Attal, Jérôme, Benadhira, René, Bouaziz, Noomane, Bubrovszky, Maxime, Calvet, Benjamin, Dollfus, Sonia, Foucher, Jack, Galvao, Filipe, Gay, Aurélia, Haesebaert, Frédéric, Haffen, Emmanuel, Jalenques, Isabelle, Januel, Dominique, Jardri, Renaud, Millet, Bruno, Nathou, Clément, Nauczyciel, Cecilia, Plaze, Marion, Vanelle, Jean-Marie, Sauvaget, Anne, Hoertel, Nicolas, Rotenberg, Léa, Blanco, Carlos, Pascal de Raykeer, Rachel, Hanon, Cécile, Kaladjian, Arthur, Limosin, Frédéric, Service d'addictologie[CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Schizophrenies Débutantes et Résistantes : de la Physiopathologie à la Thérapeutique, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Désordres psychiatriques, de la résistance à la réponse [Bron] (PsyR2), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de psychiatrie générale et addictologie [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Laboratoire de santé publique évaluation des systèmes de soins et santé perçue, ANTE-INSERM U836, équipe 11, Fonctions cérébrales et neuromodulation, Unité Traitements Biologiques, CHU Grenoble-Clinique Universitaire de Psychiatrie-CHU Grenoble-Clinique Universitaire de Psychiatrie, Université Bourgogne Franche-Comté [COMUE] (UBFC), Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinique Psychiatrique, CHU Grenoble-Pavillon Dominique-Villars, Neuropsychiatrie : recherche épidémiologique et clinique, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratoire de Psychopathologie et Neuropsychologie (LPN), Université Paris 8 Vincennes-Saint-Denis (UP8), Unité de Recherche Clinique [Ville-Evrard], Ville-Evrard: Etablissement de Ville-Evrard santé mentale psychiatrie 93, Laboratoire de Neurosciences Fonctionnelles et Pathologies (LNFP), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Service de Psychiatrie [CHU Limoges], CHU Limoges, Service de psychiatrie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Psychopathologie et de Pharmacologie de la Cognition, IFR37-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier le Vinatier [Bron], Département de psychiatrie et d'addictologie [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne)-Hôpital Nord (Saint Etienne), Fondation FondaMental [Créteil], Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux - Clermont Auvergne (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne (UCA), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Guillaume Régnier (CHGR), CH Régnier, Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Service de psychiatrie adultes et de psychologie médicale [Rennes], Neuroimagerie en psychiatrie (U1000), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Corentin Celton [Issy-les-Moulineaux], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Hospitalier Universitaire de Reims (CHU Reims), Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Corentin Celton [Issy-les-Moulineaux], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Psychiatric Disorders, Neuroscience Research and Clinical Research (PSYR2), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Service de Psychiatrie et d'Addictologie [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Psychiatrie et Neurosciences (U894), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Corentin Celton [Issy-les-Moulineaux], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), and IFR37-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

36. Facteurs prédictifs de la durée d’isolement chez les patients hospitalisés en psychiatrie. Une étude prospective multicentrique au sein du DTRF Paris-Sud

Author: V Cerboneschi, Emanuel Loeb, le Dtrf Paris-Sud, J P Metton, F Villemain, Teim Ghanem, C Debacq, Christian Trichard, R. De Beaurepaire, C Martelli, Jean-François Costemale-Lacoste, E Baup, Patrick Hardy, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Neuroimagerie en psychiatrie (U1000), and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Arts and Humanities (miscellaneous), [SDV]Life Sciences [q-bio], 030227 psychiatry
Abstract: Resume Introduction L’isolement est une mesure indispensable a la prise en charge de certaines situations psychiatriques aigues, mais souleve de nombreuses questions cliniques et ethiques invitant a en limiter la frequence d’utilisation et la duree. Connaitre les facteurs associes a la duree des isolements pourrait permettre l’elaboration de mesures de reduction. Cette etude explore les facteurs predictifs d’une longue duree d’isolement. Methode L’etude EPIC est une etude multicentrique observationnelle prospective des mesures de contention et d’isolement de sept etablissements du sud-francilien. Notre objectif etait de determiner les facteurs predictifs d’une duree d’isolement ≥ 7 jours en s’appuyant sur des analyses statistiques descriptives, bivariees et multivariees. Resultats Deux cent trente-six mesures d’isolements ont ete incluses pour cette etude. Les analyses bivariees montrent que les diagnostics de trouble de l’humeur et de trouble psychotique, l’hospitalisation sous contrainte prealable et l’administration d’un traitement sedatif sont associes a un isolement ≥ 7 jours. Les analyses multivariees montrent que les diagnostics de trouble de l’humeur [OR = 2,7, IC95 % (1,4–4,9), p = 0,002] et de trouble psychotique [OR = 3,3, IC95 % (1,2–8,4), p = 0,01] sont associes a un isolement ≥ 7 jours. L’administration d’un traitement sedatif est egalement associee dans ces 2 modeles a une duree ≥ 7 jours [OR humeur = 8,1 et OR psychotique = 2,4]. Pour les patients ayant un trouble psychotique l’hospitalisation sous contrainte prealable est egalement un facteur associe a une longue duree d’isolement. Conclusion Les patients presentant un trouble de l’humeur ou un trouble psychotique necessitant un traitement sedatif lors de l’isolement pourraient etre une bonne cible de mesures de reduction de la duree en isolement.
Published: 2019

37. Résilience et vulnérabilité : biomarqueurs en IRM cérébrale dans des groupes à risque d'addiction

Author: Filippi, Irina, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université Paris-Saclay, Jean-Luc Martinot, Eric Artiges, STAR, ABES, and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Biomarqueurs, Resilience, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Vulnerability, Addiction, Vulnérabilité, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Résilience, Biomarkers, MRI, IRM
Abstract: This thesis is devoted to the study of the neurobiological bases of resilience and vulnerability in groups of adolescents and young adults at risk of addiction who are at the heart of prevention campaigns of addictive behaviours. Although addiction research has led to major advances in the understanding of the bases of addiction, very little research has been conducted on those who are able to stop or resist despite the presence of risk and vulnerability factors. The main objective was to investigate changes in brain structure associated with spontaneous recovery from multiple-substance use as well as structural and functional changes associated with a family history of alcohol-dependence. Magnetic resonance images (MRI) were acquired using sequences of anatomical, diffusion, and functional that solicits the reward system. We have demonstrated discreet anatomical and functional variations, particularly in the cingulate gyrus, a key brain region that connects the frontal and subcortical structures involved in the reward system. These advances regarding the neurobiological underpinnings of resilience and vulnerability could fuel new research and therapeutic models targeting the rehabilitation of cingulate functions in at-risk individuals., Ce travail de thèse est consacré à l'étude des bases neurobiologiques de la résilience et de la vulnérabilité dans des groupes d’adolescents et de jeunes adultes à risque d'addiction qui sont au cœur des campagnes de prévention des conduites addictives. Même si la recherche en addictologie a permis des avancées majeures dans la compréhension des bases cérébrales de l'addiction, très peu de recherches se sont portées sur ceux qui arrivent à arrêter ou à résister en dépit de la présence de facteurs de risque et de vulnérabilité. L'objectif était de rechercher des modifications de la structure cérébrale associées à l'interruption spontanée de la poly-consommation ainsi que des modifications anatomo-fonctionnelles associées à une histoire familiale d'alcoolodépendance. A l'aide de logiciels de traitement d'images acquises en imagerie par résonance magnétique (IRM) anatomique, de diffusion, et fonctionnelle sollicitant le circuit de la récompense, nous avons mis en évidence des variations anatomiques et fonctionnelles discrètes en particulier dans le gyrus cingulaire, région clé du cerveau qui relie les structures frontales et sous-corticales impliquées dans le circuit de la récompense. La découverte de facteurs cérébraux sous-jacents à l’expression de la résilience et de la vulnérabilité pourrait alimenter de nouveaux modèles de recherche et thérapeutiques ciblant la réhabilitation des fonctions cingulaires chez les individus à risque.
Published: 2019

38. Resilience and Vulnerability : MRI Biomarkers in Groups at Risk of Addiction

Author: Filippi, Irina, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Université Paris-Saclay, Jean-Luc Martinot, and Eric Artiges
Subjects: Biomarqueurs, Resilience, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Vulnerability, Addiction, Vulnérabilité, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Résilience, Biomarkers, MRI, IRM
Abstract: This thesis is devoted to the study of the neurobiological bases of resilience and vulnerability in groups of adolescents and young adults at risk of addiction who are at the heart of prevention campaigns of addictive behaviours. Although addiction research has led to major advances in the understanding of the bases of addiction, very little research has been conducted on those who are able to stop or resist despite the presence of risk and vulnerability factors. The main objective was to investigate changes in brain structure associated with spontaneous recovery from multiple-substance use as well as structural and functional changes associated with a family history of alcohol-dependence. Magnetic resonance images (MRI) were acquired using sequences of anatomical, diffusion, and functional that solicits the reward system. We have demonstrated discreet anatomical and functional variations, particularly in the cingulate gyrus, a key brain region that connects the frontal and subcortical structures involved in the reward system. These advances regarding the neurobiological underpinnings of resilience and vulnerability could fuel new research and therapeutic models targeting the rehabilitation of cingulate functions in at-risk individuals.; Ce travail de thèse est consacré à l'étude des bases neurobiologiques de la résilience et de la vulnérabilité dans des groupes d’adolescents et de jeunes adultes à risque d'addiction qui sont au cœur des campagnes de prévention des conduites addictives. Même si la recherche en addictologie a permis des avancées majeures dans la compréhension des bases cérébrales de l'addiction, très peu de recherches se sont portées sur ceux qui arrivent à arrêter ou à résister en dépit de la présence de facteurs de risque et de vulnérabilité. L'objectif était de rechercher des modifications de la structure cérébrale associées à l'interruption spontanée de la poly-consommation ainsi que des modifications anatomo-fonctionnelles associées à une histoire familiale d'alcoolodépendance. A l'aide de logiciels de traitement d'images acquises en imagerie par résonance magnétique (IRM) anatomique, de diffusion, et fonctionnelle sollicitant le circuit de la récompense, nous avons mis en évidence des variations anatomiques et fonctionnelles discrètes en particulier dans le gyrus cingulaire, région clé du cerveau qui relie les structures frontales et sous-corticales impliquées dans le circuit de la récompense. La découverte de facteurs cérébraux sous-jacents à l’expression de la résilience et de la vulnérabilité pourrait alimenter de nouveaux modèles de recherche et thérapeutiques ciblant la réhabilitation des fonctions cingulaires chez les individus à risque.
Published: 2019

39. Unearthing the Evolutionary History of Genetic Variants Influencing Human Sulcal Widening Authors: Introduction

Author: Lemaître, Hervé, Le Guen, Yann, Tilot, Amanda, Stein, Jason, Philippe, Cathy, Mangin, Jean-François, Frouin, Vincent, Fischer, Simon, Dehaene, Stanislas, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Unité Analyse et Traitement de l'Information (UNATI), Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Neuroimagerie cognitive - Psychologie cognitive expérimentale (UNICOG-U992), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Saclay (COmUE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Psychologie cognitive expérimentale, Collège de France (CdF (institution)), mangin, jean-francois, Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University of California (UC)-University of California (UC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, and Collège de France - Chaire Psychologie cognitive expérimentale
Subjects: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

40. Anatomical and functional abnormalities on MRI in kabuki syndrome

Author: Ana Saitovitch, Jennifer Boisgontier, Elza Rechtman, Ludovic Fillon, David Grevent, Odile Boute, Elise Schaefer, Elodie Sanchez, Damien Sanlaville, Natacha Lehman, Laurence Faivre, David Geneviève, Vincent Gatinois, Nathalie Boddaert, Jean Marc Tacchella, Kim-Hanh Le Quang Sang, Marlène Rio, M. Zilbovicius, Hervé Lemaitre, Stanislas Lyonnet, Guilaine Boursier, Geneviève Baujat, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Jeanne de Flandre [Lille], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Part of this work was supported by the French Ministry of Health(ProgrammeHospitalierdeRechercheCliniquenationalAOM07-090),Fondation Maladies Rares, and the French Kabuki Associationhttp://www.syndromekabuki.fr/.WethanktheFrenchKabukiAssociationfortheirhelpinthisstudy., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Michel-Avella, Amandine
Subjects: Male, Pathology, BA, brodmann area, Arterial spin labeling, Hippocampus, lcsh:RC346-429, 0302 clinical medicine, GLM, general linear model, Congenital disorder, Medicine, FWHM, full-width at half-maximum, Child, TE, echo time, Brain Mapping, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, SMA, supplementary motor area, 05 social sciences, DG, dentate gyrus, Brain, VCI, verbal comprehension index, ASL, arterial spin labeling, Magnetic Resonance Imaging, TR, repetition time, PSI, processing speed index, medicine.anatomical_structure, Neurology, Cerebral blood flow, Vestibular Diseases, lcsh:R858-859.7, Female, CBF, cerebral blood flow, medicine.medical_specialty, Adolescent, Cognitive Neuroscience, MNI, Montreal Neurological Institute, Brodmann area 6 and 9, Grey matter, lcsh:Computer applications to medicine. Medical informatics, 050105 experimental psychology, Article, 03 medical and health sciences, VBM, voxel-based morphometry, Middle frontal gyrus, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Abnormalities, Multiple, lcsh:Neurology. Diseases of the nervous system, PRI, perceptive reasoning index, KS, kabuki syndrome, Kabuki syndrome, business.industry, Dentate gyrus, Precentral gyrus, Voxel-based morphometry, GM, grey matter, WMI, working memory index, medicine.disease, Hematologic Diseases, Face, TPM, tissue probability map, Spin Labels, Neurology (clinical), FSIQ, full-scale intelligence quotient, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. Although genetic abnormalities have been highlighted in KS, brain abnormalities have been little explored. Here, we have investigated brain abnormalities in 6 patients with KS (4 males; Mage = 10.96 years, SD = 2.97 years) with KMT2D mutation in comparison with 26 healthy controls (17 males; Mage = 10.31 years, SD = 2.96 years). We have used MRI to explore anatomical and functional brain abnormalities in patients with KS. Anatomical abnormalities in grey matter volume were assessed by cortical and subcortical analyses. Functional abnormalities were assessed by comparing rest cerebral blood flow measured with arterial spin labeling-MRI. When compared to healthy controls, KS patients had anatomical alterations characterized by grey matter decrease localized in the bilateral precentral gyrus and middle frontal gyrus. In addition, KS patients also presented functional alterations characterized by cerebral blood flow decrease in the left precentral gyrus and middle frontal gyrus. Moreover, subcortical analyses revealed significantly decreased grey matter volume in the bilateral hippocampus and dentate gyrus in patients with KS. Our results strongly indicate anatomical and functional brain abnormalities in KS. They suggest a possible neural basis of the cognitive symptoms observed in KS, such as fine motor impairment, and indicate the need to further explore the consequences of such brain abnormalities in this disorder. Finally, our results encourage further imaging-genetics studies investigating the link between genetics, anatomical and functional brain alterations in KS., Highlights • Kabuki syndrome children show decreased grey matter in precentral and frontal areas • Decreased rest cerebral blood flow is also observed in the same regions • Hippocampus and dentate gyrus volumes are reduced • Brain abnormalities, so far understudied, could underpin clinical deficits
Published: 2019

41. Adolescent binge drinking disrupts normal trajectories of brain functional organization and personality maturation

Author: Zhaowen Liu, Herta Flor, Frauke Nees, Gabriel Robert, Christian Büchel, Juliane H. Fröhner, Tobias Banaschewski, Yunyi Zhou, Michael N. Smolka, Sylvane Desrivières, Fei Li, Qiang Luo, Robert Whelan, Andreas Heinz, Arun L.W. Bokde, Gunter Schumann, Luise Poustka, Erin Burke Quinlan, Marie-Laure Paillère Martinot, Henrik Walter, Penny A. Gowland, Vincent Frouin, Jianfeng Feng, Hongtao Ruan, Bernd Ittermann, Hugh Garavan, Jean-Luc Martinot, Dimitri Papadopoulos Orfanos, Uli Bromberg, Sarah Hohmann, Jonchère, Laurent, Santé Mentale et Addictions - Dépression à l'Adolescence: Structure cérébrale et myélinisation - - ADODEP2012 - ANR-12-SAMA-0004 - SAMENTA - VALID, Fudan University [Shanghai], Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes], Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Xidian University, Central Institute of Mental Health [Mannheim], Medical Faculty [Mannheim], Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), University of Vermont [Burlington], University of Nottingham, UK (UON), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Physikalisch-Technische Bundesanstalt [Braunschweig] (PTB), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Heidelberg University, University Medical Center Göttingen (UMG), Technische Universität Dresden = Dresden University of Technology (TU Dresden), MR/N000390/1, Medical Research Council Canada, 20152234, Shanghai Municipal Education Commission, AERIAL 01EE1406A, Bundesministeriumfür Bildung und Forschung, ANR-12-SAMA-0004, ANR, Shanghai AI Platform for Diagnosis and Treatment of Brain Diseases, Fondation pour la Recherche Médicale, Assistance-Publique-Hôpitaux-de-Paris, 16/ERCD/3797, National Institutes of Health, Science Foundation Ireland, IDEX 2012, Université Paris-Sud, RO1 MH085772-01A1, U.S.A., U54 EB020403, NIH, National Institute for Health Research, MR/N027558/1, BRIDGET, 81761128035, National Natural Science Foundation of China, Fondation de France, LSHM-CT- 2007-037286, European Commission, 2016-17, Project of Zhangjiang Hi-Tech District Management Committee, Shanghai, SFB 940/1, Deutsche Forschungsgemeinschaft, 695313, Horizon 2020 Framework Programme, Mission Interministérielle de Lutte Contre les Drogues et les Conduites Addictives, 17ZR1444400, Natural Science Foundation of Shanghai, Svenska Forskningsrådet Formas, 2018SHZDZX01, Shanghai Municipal Science and Technology, 602450, FP7, Zhangjiang Lab, 16JC1420402, Shanghai Science and Technology Innovation Plan, B18015, Higher Education Discipline Innovation Project, GDEK201709, Shanghai Municipal Commission of Health and Family Planning, 16CR2025B, Shanghai Shenkang Hospital Development Center, 17XD1403200, Shanghai Committee of Science and Technology, 2018YJRC03, Xinhua Hospital of Shanghai Jiao Tong University School of Medicine, PR-ST-0416-10004, ERANID, Institut National de la Santé et de la Recherche Médicale, 603016, MATRICS, 115300-2, Innovative Medicine Initiative Project EU-AIMS, Maudsley NHS Foundation Trust, 2018YFC0910503, National Basic Research Program of China (973 Program), King's College London, ANR-12-SAMA-0004,ADODEP,Dépression à l'Adolescence: Structure cérébrale et myélinisation(2012), Université de Rennes (UR)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes = Institute of Clinical Neurosciences of Rennes (INCR), University Hospital Mannheim | Universitätsmedizin Mannheim, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université européenne de Bretagne - European University of Brittany (UEB)-CHU Pontchaillou [Rennes]-Institut des Neurosciences Cliniques de Rennes (INCR), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)
Subjects: Male, Support Vector Machine, Time Factors, Co-development, [SDV]Life Sciences [q-bio], iFC, increased rsFC, Binge drinking, Underage Drinking, Adolescent, Genome, Personality, Resting state, lcsh:RC346-429, 0302 clinical medicine, rsFC, resting-state functional connectivity, Longitudinal Studies, Cantab, Cambridge Neuropsychological Test Automated Battery, Age of Onset, Big Five personality traits, media_common, rsfMRI, resting-state fMRI, ANOVA, Analysis of Variance, NEO-PI-R, Revised NEO Personality Inventory, 05 social sciences, Brain, Regular Article, SNP, single nucleotide polymorphism, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], ESPAD, European School Survey Project on Alcohol and Drugs, Neurology, lcsh:R858-859.7, Female, Functional organization, medicine.symptom, Psychology, Alcohol consumption, Clinical psychology, Adult, FDR, false discovery rate, Cognitive Neuroscience, media_common.quotation_subject, SVM, support-vector machine, AUC, area under curve, Impulsivity, lcsh:Computer applications to medicine. Medical informatics, 050105 experimental psychology, Young Adult, 03 medical and health sciences, Connectome, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, pSNP, protective SNP, ROC, receiver operational characteristic, lcsh:Neurology. Diseases of the nervous system, rSNP, risk SNP, dFC, decreased rsFC, Resting state fMRI, Adolescent Development, Mental health, LOO, leave-one-out, NRI, net reclassification improvement, Personality Development, Impulsive Behavior, Neurology (clinical), SURPS, Substance Use Risk Profile Scale, 030217 neurology & neurosurgery
Abstract: Adolescent binge drinking has been associated with higher risks for the development of many health problems throughout the lifespan. Adolescents undergo multiple changes that involve the co-development processes of brain, personality and behavior; therefore, certain behavior, such as alcohol consumption, can have disruptive effects on both brain development and personality maturation. However, these effects remain unclear due to the scarcity of longitudinal studies. In the current study, we used multivariate approaches to explore discriminative features in brain functional architecture, personality traits, and genetic variants in 19-year-old individuals (n = 212). Taking advantage of a longitudinal design, we selected features that were more drastically altered in drinkers with an earlier onset of binge drinking. With the selected features, we trained a hierarchical model of support vector machines using a training sample (n = 139). Using an independent sample (n = 73), we tested the model and achieved a classification accuracy of 71.2%. We demonstrated longitudinally that after the onset of binge drinking the developmental trajectory of improvement in impulsivity slowed down. This study identified the disrupting effects of adolescent binge drinking on the developmental trajectories of both brain and personality., Highlights • History of binge drinking could be identified by multivariate features at age 19. • Adolescent binge drinking disrupted frontal connectivity maturation in the brain. • Impulsivity improvement slowed down after the onset of adolescent binge drinking.
Published: 2019

42. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Author: Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., Zorzi, R. de, Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., Groppa, S., Karashova, B.M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J.S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M.D., Maagdenberg, A.M.J.M. van den, Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A.M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B.M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E.Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N.N., Atawneh, O., Lim, S.Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y.A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., Lonlay, P. de, Cantagrel, V., Aguennouz, M., Khorassani, M. el, Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., SYNAPS Study Grp, Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., De Zorzi, R., Payne, K., Henderson, L. B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J. A., Provitera, V., Schuelke, M., Vandrovcova, J., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E. G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., De Lonlay, P., Cantagrel, V., Aguennouz, M., El Khorassani, M., Schmidts, M., Alkuraya, F. S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Van Den Maagdenberg, A. M. J. M., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratory of Molecular Biophysics, Department of Biochemistry, Department of Biochemistry, Hertie Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Department of Medical and Molecular Genetics, King‘s College London, Department of Human Genetics, Ruhr University Bochum (RUB), Universitat de Barcelona (UB), Fondazione, Leiden University Medical Center (LUMC), Department of Physiology and Cellular Biophysics [New York, NY, USA], Columbia University College of Physicians and Surgeons, Department of Microbiology, Università degli studi di Catania [Catania], Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ceinge, centro di Ingegneria Genetica e Biotecnologie Avanzate, Unité des troubles du sommeil, Centre de référence national sur les maladies rares (narcolepsie, hypersomnie idiopathique, syndrome de Kleine-Levin)-Hôpital Gui-de-Chauliac, Muscular and Neurodegenerative Disease Unit, University of Genoa (UNIGE), Department of Molecular Neuroscience, University College of London [London] (UCL)-Institute of Neurology, Indiana University, Indiana University [Bloomington], Indiana University System-Indiana University System, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service métabolisme, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-CHU Necker - Enfants Malades [AP-HP], Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center [Jerusalem], Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Efthymiou S., Salpietro V., Malintan N., Poncelet M., Kriouile Y., Fortuna S., De Zorzi R., Payne K., Henderson L.B., Cortese A., Maddirevula S., Alhashmi N., Wiethoff S., Ryten M., Botia J.A., Provitera V., Schuelke M., Vandrovcova J., Walsh L., Torti E., Iodice V., Najafi M., Karimiani E.G., Maroofian R., Siquier-Pernet K., Boddaert N., De Lonlay P., Cantagrel V., Aguennouz M., El Khorassani M., Schmidts M., Alkuraya F.S., Edvardson S., Nolano M., Devaux J., Houlden H., Groppa S., Karashova B.M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., Van Den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Kullmann D., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y.A., Minetti C., Al-Khawaja I., Al-Mutairi F., Hamed S., Pipis M., Bettencourt C., Rinaldi S., Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Marku, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)
Subjects: Male, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Nerve Fibers, Myelinated, Gene Frequency, Neurodevelopmental Disorder, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Nerve Growth Factor, Protein Isoforms, Child, ComputingMilieux_MISCELLANEOUS, Myelin Sheath, neurofascin, neurodevelopment, peripheral demyelination, Allele, Demyelinating Disease, Genomics, neurodevelopment, neurofascin, peripheral demyelination, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, Child, Preschool, Peripheral Nerve, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neuroglia, Human, Adult, Adolescent, Nervous System Malformations, Guillain-Barre Syndrome, Axon, Nervous System Malformation, Ranvier's Nodes, Humans, Nerve Growth Factors, Peripheral Nerves, Alleles, Autoantibodies, Infant, Protein Isoform, Original Articles, Axons, nervous system, Neurodevelopmental Disorders, Cell Adhesion Molecule, Mutation, Cell Adhesion Molecules, Demyelinating Diseases
Abstract: See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres., Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell adhesion molecules of the immunoglobulin superfamily including neurofascin, encoded by the NFASC gene, and its alternative isoforms Nfasc186 and Nfasc140 (located in the axonal membrane at the node of Ranvier) and Nfasc155 (a glial component of the paranodal axoglial junction). We identified 10 individuals from six unrelated families, exhibiting a neurodevelopmental disorder characterized with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement, who were found by exome or genome sequencing to carry one frameshift and four different homozygous non-synonymous variants in NFASC. Expression studies using immunostaining-based techniques identified absent expression of the Nfasc155 isoform as a consequence of the frameshift variant and a significant reduction of expression was also observed in association with two non-synonymous variants affecting the fibronectin type III domain. Cell aggregation studies revealed a severely impaired Nfasc155-CNTN1/CASPR1 complex interaction as a result of the identified variants. Immunofluorescence staining of myelinated fibres from two affected individuals showed a severe loss of myelinated fibres and abnormalities in the paranodal junction morphology. Our results establish that recessive variants affecting the Nfasc155 isoform can affect the formation of paranodal axoglial junctions at the nodes of Ranvier. The genetic disease caused by biallelic NFASC variants includes neurodevelopmental impairment and a spectrum of central and peripheral demyelination as part of its core clinical phenotype. Our findings support possible overlapping molecular mechanisms of paranodal damage at peripheral nerves in both the immune-mediated and the genetic disease, but the observation of prominent central neurological involvement in NFASC biallelic variant carriers highlights the importance of this gene in human brain development and function.
Published: 2019

43. Sex Effects on Structural Maturation and Outcomes on Emotional Regulation During Adolescence

Author: Bezivin, Pauline, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Université Paris Saclay (COmUE), Jean-Luc Martinot, Xavier Pennec, and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Sexual dimorphism, Dimorphisme sexuel, Imagerie multimodale, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Multimodal imaging, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Puberty, Puberté, Étude longitudinale, Longitudinal study
Abstract: In adolescence, brain maturation involves subtle global and regional anatomical changes, and estimating the exact morphology of some structures during post-pubertal development is therefore difficult. Effect of sexual dimorphism on brain maturation has been under-explored prospectively by magnetic resonance imaging. In this context, this work is focused on the longitudinal study of the effects of sex on brain maturation using two methods to control and analyze the spatial positioning variations of images acquired at different time points. In a first study using a multimodal approach, our goal was to examine sexual dimorphism in brain maturation of the limbic system to explain the emotional differences between girls and boys during adolescence. We adapted a method of longitudinal processing on anatomical and diffusion images of 335 healthy adolescents between 14 and 16 years. We highlighted sexual differences in brain maturation of the limbic system with a later maturation of boys compared to girls. These changes mediated sexual differences in emotional regulation, illustrated by an increase in positive personality traits in boys and a decrease in girls. In a second study using an original registration approach, our objective was to estimate and extrapolate maturation trajectories based on sexual dimorphism. We highlighted divergent trajectories between girls and boys between 14 and 16, illustrating a differentiation in maturation rates that increased during this period, specifically in the prefrontal cortex. These differential trajectories made it possible to estimate a maturational advance of 5 months in girls in the prefrontal cortex. All these results provide useful information for a better understanding of the differences in brain maturation between girls and boys, and their links with the emotional system dysregulation and therefore the vulnerability to depression in adolescence.; A l'adolescence, la maturation cérébrale implique des changements anatomiques globaux et régionaux subtils, et estimer la morphologie exacte de certaines structures au cours du développement post-pubertaire est par conséquent difficile. L'effet du dimorphisme sexuel sur la maturation cérébrale n'a été que très peu exploré de façon prospective par l'imagerie par résonance magnétique. Dans ce contexte, ce travail de thèse est consacré à l'étude longitudinale des effets du sexe sur la maturation cérébrale à l'aide de deux méthodes pour contrôler et analyser les variations de positionnement spatial des images acquises à différents intervalles de temps. Dans une première étude utilisant une approche multimodale, notre objectif était d'examiner si le dimorphisme sexuel dans la maturation cérébrale du système limbique pouvait expliquer les différences émotionnelles entre les filles et les garçons pendant l'adolescence. Nous avons adapté pour cela une méthode de traitement longitudinal sur des images anatomiques et de diffusion de 335 adolescents sains entre 14 et 16 ans. Nous avons mis en évidence des différences sexuelles dans la maturation cérébrale du système limbique avec une maturation plus tardive des garçons par rapport aux filles. Ces changements avaient un rôle médiateur sur les différences sexuelles dans la régulation émotionnelle, illustrée par une augmentation des traits de personnalité positifs chez les garçons et une diminution chez les filles. Dans une deuxième étude utilisant une approche originale de recalage, notre objectif était d'estimer et extrapoler des trajectoires de maturation en fonction du dimorphisme sexuel. Nous avons mis en évidence des trajectoires divergentes entre les filles et les garçons entre 14 et 16 ans, illustrant une différenciation des vitesses de maturation croissante à cette période, spécifiquement dans le cortex préfrontal. Ces trajectoires différentielles ont permis d'estimer une avance de maturation de 5 mois chez les filles dans le cortex préfrontal. L'ensemble de ces résultats apporte des informations utiles à une meilleure compréhension des différences de maturation cérébrale entre les filles et les garçons, et de leurs liens avec la dérégulation du système émotionnel et donc la vulnérabilité à la dépression à l'adolescence.
Published: 2018

44. Social cognition and social brain in developmental disorders during childhood

Author: Rechtman, Elza, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité, Monica Zilbovicius, Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)
Subjects: Developmental trajectories, IRM-ASL, Trajectoires développementales, Perception sociale, Social perception, ASL-MRI, PFAC, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Eye-tracking, KAFP, ASD, STS, TSA
Abstract: Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by abnormal social interactions. Eye-tracking studies have objectively reported social perception abnormalities in ASD, characterized by a decrease of gaze towards social stimuli. Brain imaging studies, using PET and SPECT methods, have revealed a decrease in cerebral blood flow (CSF) at rest in the temporal regions, particularly in the superior temporal sulcus (STS), in children with ASD. Nowadays, it is possible to measure rest CBF with MRI using arterial spin labeling (ASL) sequence. In this thesis, we confirmed the decreased in rest CBF within the STS in children with ASD using MRI-ASL, which could allow its use as a biomarker in ASD. We also suggest that rest CBF could be a more relevant index for studying basic brain function in ASD. In addition, we performed a cross-sectional eye-tracking study using the same stimuli over a wide age-range and showed the impact of age on social perception in ASD and in typical development. Finally, we showed social perception abnormalities, using eye-tracking, and cortical functioning abnormalities within the STS using MRI-ASL, in children with posterior fossa arachnoid cyst. A better understanding of the social difficulties underlying this disorder could have a major impact on patient outcome.; Les troubles du spectre autistique (TSA) sont des troubles neuro-développementaux caractérisés notamment par des anomalies des interactions sociales. Des études en eye-tracking ont permis de mettre en évidence de façon objective des anomalies de la perception sociale dans les TSA, caractérisées par une diminution du regard vers des stimuli sociaux. Des études sur le fonctionnement cérébral, par des méthodes TEP et SPECT, ont mis en évidence une diminution du débit sanguin cérébral (DSC) au repos au niveau des régions temporales, notamment au niveau du sillon temporal supérieur (STS), chez des enfants avec TSA. Nous avons aujourd’hui la possibilité de mesurer le DSC au repos en IRM avec la séquence arterial spin labelling (ASL). Dans cette thèse nous avons confirmé la diminution du DSC au repos au niveau du STS chez des enfants avec TSA par la méthode IRM-ASL, ce qui pourraient permettre son utilisation en tant que biomarqueur dans les TSA. Nous suggérons également que le DSC au repos pourrait être un indice plus pertinent pour l’étude du fonctionnement cérébral de base dans les TSA. De plus, par une étude transversale en eye-tracking utilisant les mêmes stimuli sur une large tranche d’âge, nous avons montré l’impact de l’âge sur la perception sociale chez des participants avec TSA et des témoins. Enfin, nous avons mis en évidence des anomalies de perception sociale par l’eye-tracking et de fonctionnement cortical au niveau du STS par l’IRM-ASL, chez des enfants ayant un kyste arachnoïdien de la fosse postérieure. Une meilleure connaissance des difficultés sociales subjacentes à ce trouble peut avoir un impact majeur sur la prise en charge de ces enfants.
Published: 2018

45. Social cognition and social brain in developmental disorders during childhood

Author: Rechtman, Elza, Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Université Sorbonne Paris Cité, and Monica Zilbovicius
Subjects: Developmental trajectories, IRM-ASL, Trajectoires développementales, Perception sociale, Social perception, ASL-MRI, PFAC, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Eye-tracking, KAFP, ASD, STS, TSA
Abstract: Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by abnormal social interactions. Eye-tracking studies have objectively reported social perception abnormalities in ASD, characterized by a decrease of gaze towards social stimuli. Brain imaging studies, using PET and SPECT methods, have revealed a decrease in cerebral blood flow (CSF) at rest in the temporal regions, particularly in the superior temporal sulcus (STS), in children with ASD. Nowadays, it is possible to measure rest CBF with MRI using arterial spin labeling (ASL) sequence. In this thesis, we confirmed the decreased in rest CBF within the STS in children with ASD using MRI-ASL, which could allow its use as a biomarker in ASD. We also suggest that rest CBF could be a more relevant index for studying basic brain function in ASD. In addition, we performed a cross-sectional eye-tracking study using the same stimuli over a wide age-range and showed the impact of age on social perception in ASD and in typical development. Finally, we showed social perception abnormalities, using eye-tracking, and cortical functioning abnormalities within the STS using MRI-ASL, in children with posterior fossa arachnoid cyst. A better understanding of the social difficulties underlying this disorder could have a major impact on patient outcome.; Les troubles du spectre autistique (TSA) sont des troubles neuro-développementaux caractérisés notamment par des anomalies des interactions sociales. Des études en eye-tracking ont permis de mettre en évidence de façon objective des anomalies de la perception sociale dans les TSA, caractérisées par une diminution du regard vers des stimuli sociaux. Des études sur le fonctionnement cérébral, par des méthodes TEP et SPECT, ont mis en évidence une diminution du débit sanguin cérébral (DSC) au repos au niveau des régions temporales, notamment au niveau du sillon temporal supérieur (STS), chez des enfants avec TSA. Nous avons aujourd’hui la possibilité de mesurer le DSC au repos en IRM avec la séquence arterial spin labelling (ASL). Dans cette thèse nous avons confirmé la diminution du DSC au repos au niveau du STS chez des enfants avec TSA par la méthode IRM-ASL, ce qui pourraient permettre son utilisation en tant que biomarqueur dans les TSA. Nous suggérons également que le DSC au repos pourrait être un indice plus pertinent pour l’étude du fonctionnement cérébral de base dans les TSA. De plus, par une étude transversale en eye-tracking utilisant les mêmes stimuli sur une large tranche d’âge, nous avons montré l’impact de l’âge sur la perception sociale chez des participants avec TSA et des témoins. Enfin, nous avons mis en évidence des anomalies de perception sociale par l’eye-tracking et de fonctionnement cortical au niveau du STS par l’IRM-ASL, chez des enfants ayant un kyste arachnoïdien de la fosse postérieure. Une meilleure connaissance des difficultés sociales subjacentes à ce trouble peut avoir un impact majeur sur la prise en charge de ces enfants.
Published: 2018

46. Sex Effects on Structural Maturation and Outcomes on Emotional Regulation During Adolescence

Author: Bezivin, Pauline, STAR, ABES, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Saclay (COmUE), Jean-Luc Martinot, and Xavier Pennec
Subjects: Dimorphisme sexuel, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Puberty, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.NEU.PC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, Sexual dimorphism, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Imagerie multimodale, Multimodal imaging, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Puberté, Étude longitudinale, Longitudinal study
Abstract: In adolescence, brain maturation involves subtle global and regional anatomical changes, and estimating the exact morphology of some structures during post-pubertal development is therefore difficult. Effect of sexual dimorphism on brain maturation has been under-explored prospectively by magnetic resonance imaging. In this context, this work is focused on the longitudinal study of the effects of sex on brain maturation using two methods to control and analyze the spatial positioning variations of images acquired at different time points. In a first study using a multimodal approach, our goal was to examine sexual dimorphism in brain maturation of the limbic system to explain the emotional differences between girls and boys during adolescence. We adapted a method of longitudinal processing on anatomical and diffusion images of 335 healthy adolescents between 14 and 16 years. We highlighted sexual differences in brain maturation of the limbic system with a later maturation of boys compared to girls. These changes mediated sexual differences in emotional regulation, illustrated by an increase in positive personality traits in boys and a decrease in girls. In a second study using an original registration approach, our objective was to estimate and extrapolate maturation trajectories based on sexual dimorphism. We highlighted divergent trajectories between girls and boys between 14 and 16, illustrating a differentiation in maturation rates that increased during this period, specifically in the prefrontal cortex. These differential trajectories made it possible to estimate a maturational advance of 5 months in girls in the prefrontal cortex. All these results provide useful information for a better understanding of the differences in brain maturation between girls and boys, and their links with the emotional system dysregulation and therefore the vulnerability to depression in adolescence., A l'adolescence, la maturation cérébrale implique des changements anatomiques globaux et régionaux subtils, et estimer la morphologie exacte de certaines structures au cours du développement post-pubertaire est par conséquent difficile. L'effet du dimorphisme sexuel sur la maturation cérébrale n'a été que très peu exploré de façon prospective par l'imagerie par résonance magnétique. Dans ce contexte, ce travail de thèse est consacré à l'étude longitudinale des effets du sexe sur la maturation cérébrale à l'aide de deux méthodes pour contrôler et analyser les variations de positionnement spatial des images acquises à différents intervalles de temps. Dans une première étude utilisant une approche multimodale, notre objectif était d'examiner si le dimorphisme sexuel dans la maturation cérébrale du système limbique pouvait expliquer les différences émotionnelles entre les filles et les garçons pendant l'adolescence. Nous avons adapté pour cela une méthode de traitement longitudinal sur des images anatomiques et de diffusion de 335 adolescents sains entre 14 et 16 ans. Nous avons mis en évidence des différences sexuelles dans la maturation cérébrale du système limbique avec une maturation plus tardive des garçons par rapport aux filles. Ces changements avaient un rôle médiateur sur les différences sexuelles dans la régulation émotionnelle, illustrée par une augmentation des traits de personnalité positifs chez les garçons et une diminution chez les filles. Dans une deuxième étude utilisant une approche originale de recalage, notre objectif était d'estimer et extrapoler des trajectoires de maturation en fonction du dimorphisme sexuel. Nous avons mis en évidence des trajectoires divergentes entre les filles et les garçons entre 14 et 16 ans, illustrant une différenciation des vitesses de maturation croissante à cette période, spécifiquement dans le cortex préfrontal. Ces trajectoires différentielles ont permis d'estimer une avance de maturation de 5 mois chez les filles dans le cortex préfrontal. L'ensemble de ces résultats apporte des informations utiles à une meilleure compréhension des différences de maturation cérébrale entre les filles et les garçons, et de leurs liens avec la dérégulation du système émotionnel et donc la vulnérabilité à la dépression à l'adolescence.
Published: 2018

47. Multimodal Brain Imaging Study of the Dopaminergic and Reward Systems in Patients with Mental Disorders

Author: Dubol, Manon, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Saclay, Eric Artiges, Jean-Luc Martinot, and Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: Psychiatry, PET, TEP, Reward, Dopamine, Récompense, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, MRI, IRM, Psychiatrie
Abstract: This work focuses on the study of the neurobiological bases of psychiatric disorders using multimodal imaging, with a particular interest in the dopaminergic pathways and the reward system. Its primary objective is to establish, through Positron Emission Tomography (PET) and Magnetic Resonance Imaging (MRI), a link between the dopaminergic system and the reward system from a functional and structural point of view in humans, and especially in patients with psychiatric disorders such as schizophrenia, cocaine addiction and depression. Numerous studies have demonstrated the concomitant existence of abnormalities affecting dopaminergic function and reward system in several mental disorders. However, understanding of the linkages between dopaminergic dysfunction and dysfunction of the reward circuit in psychiatric disorders remains limited. The main aims of this thesis are to improve knowledge about the pathophysiology of several mental disorders such as schizophrenia, addiction and depression, and to demonstrate the interest of both a dimensional approach and the use of multimodal imaging in psychiatric research, to explore the molecular level of functional neural networks. In perspective, this thesis supports the interest of brain imaging in clinical practice, as it could later clarify the diagnosis, predict response to treatments or follow the course of the disease.; Ce travail de thèse est consacré à l'étude en imagerie multimodale des bases neurobiologiques des pathologies psychiatriques, avec un intérêt particulier pour les voies dopaminergiques et le système de récompense. Son principal objectif est d'établir, par l’intermédiaire de la Tomographie à Emission de Positons (TEP) et l’Imagerie par Résonance Magnétique (IRM), un lien entre le système dopaminergique et le système de récompense d’un point de vue fonctionnel et structurel chez l’Homme, et en particulier chez des patients présentant des troubles psychiatriques tels que la schizophrénie, l’addiction à la cocaïne et la dépression. De nombreuses études ont démontré l’existence concomitante d’anomalies de la fonction dopaminergique et du système de récompense dans plusieurs troubles mentaux. Cependant, la connaissance des liens entre dysfonctions dopaminergiques et dysfonctions du circuit de la récompense dans les pathologies psychiatriques reste limitée. L’objectif de cette thèse est ainsi d’améliorer les connaissances sur la physiopathologie de plusieurs troubles mentaux comme la schizophrénie, l’addiction et la dépression, et de démontrer l’intérêt d’une approche dimensionnelle et de l’utilisation de l’imagerie multimodale pour l’exploration du niveau moléculaire de réseaux neuronaux fonctionnels dans la recherche en psychiatrie. En perspective, ce travail de thèse soutient l’intérêt de l’imagerie en pratique psychiatrique, car elle pourrait par la suite permettre de préciser le diagnostic, prédire les réponses aux traitements ou étudier l’évolution de la maladie au cours du temps.
Published: 2017

48. MDPV and α-PVP use in humans: The twisted sisters

Author: Laurent Karila, Amandine Scocard, Amine Benyamina, Geneviève Lafaye, Olivier Cottencin, Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bordeaux (UB), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Hôpital Paul Brousse, Hôpital Paul Brousse-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse, and Université de Lille, LillOA
Subjects: medicine.medical_specialty, Drugs of abuse, Pyrrolidines, Substance-Related Disorders, medicine.drug_class, Population, Pyrovalerone, Pharmacology, 01 natural sciences, Designer Drugs, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, [SCCO]Cognitive science, 0302 clinical medicine, Pentanones, medicine, Humans, Benzodioxoles, Psychiatry, education, education.field_of_study, Dose-Response Relationship, Drug, business.industry, Public health, 010401 analytical chemistry, MDMA, [SCCO] Cognitive science, Methamphetamine, Synthetic Cathinone, 0104 chemical sciences, 3. Good health, Designer drug, chemistry, Central Nervous System Stimulants, business, 030217 neurology & neurosurgery, medicine.drug, Bath salts
Abstract: The new psychoactive substances phenomenon continues to represent a considerable public health challenge. Synthetic cathinones are β-keto amphetamine analogues, also known as legal highs, research chemicals, bath salts. These drugs have surfaced as a popular alternative to other illicit drugs of abuse, such as cocaine, MDMA, and methamphetamine, due to their potent psychostimulant and empathogenic effects. Pyrovalerone cathinones (a-pyrrolidinophenones) form a distinct group of designer cathinones, such as MDPV. After being listed as an illegal product, "second generation" compounds such as α-PVP, sharing a very similar chemical structure with MDPV, were developed. Clinical effects of these compounds are individual, dose- and route of administration-dependent. Both of them have been involved in an increased number of, not only acute intoxications but also fatalities over the past few years, raising concerns in the medical field. In this paper, we will review the available data regarding the use and effects of MDPV and α-PVP in humans in order to highlight their impact on public health. Health actors and general population need to be clearly informed of potential risks and consequences of these 2 novel psychoactive substances spread and use. The literature search conducted led to the identification of potentially 83 relevant articles. All articles were screened from their abstracts to determine their relevance in the framework of the current review. This article is part of the Special Issue entitled 'Designer Drugs and Legal Highs.'
Published: 2017

49. Blunted ventral striatal responses to anticipated rewards foreshadow problematic drug use in novelty-seeking adolescents

Author: Uli Bromberg, Christian Büchel, Gunter Schumann, Patricia J. Conrod, Brian Knutson, Marie Laure Paillère-Martinot, Herta Flor, Karl Mann, Luise Poustka, Hugh Garavan, Andreas Heinz, Marcella Rietschel, Bernd Ittermann, Penny A. Gowland, Michael N. Smolka, Arun L.W. Bokde, Henrik Walter, Juergen Gallinat, Dimitri Papadopoulos, Zdenka Pausova, Jean-Luc Martinot, Jan Peters, Tobias Banaschewski, Tomáš Paus, Trevor W. Robbins, Frauke Nees, Papadopoulos, Dimitri [0000-0002-1242-8990], Smolka, Michael N [0000-0001-5398-5569], Apollo - University of Cambridge Repository, Institute for Systems Neuroscience, Intelligent Autonomous Systems (IAS), Technische Universität Darmstadt (TU Darmstadt), Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg], Trinity College Dublin, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Universität Mannheim [Mannheim], Service NEUROSPIN (NEUROSPIN), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of Vermont [Burlington], Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Neuroimagerie en psychiatrie (U1000), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Department of Experimental Psychology, University of Cambridge [UK] (CAM), Göttingen Zentrum Geowissenschaften, Georg-August-University [Göttingen], IMAGEN received research funding from the European Community’s Sixth FrameworkProgramme (LSHM-CT-2007-037286). C.B. is supported by the DFG (SFB 936), the ERC(ERC-2010-AdG_20100407) and BMBF (AERIAL), Université de Montréal. Faculté de médecine. Département de psychiatrie et d'addictologie, Technische Universität Darmstadt - Technical University of Darmstadt (TU Darmstadt), Universität Heidelberg [Heidelberg] = Heidelberg University, Universität Mannheim, Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Heidelberg [Heidelberg] = Heidelberg University-Central Institute of Mental Health Mannheim, Georg-August-University = Georg-August-Universität Göttingen, and Savelli, Bruno
Subjects: 0301 basic medicine, Male, Adolescent, Substance-Related Disorders, Science, [SDV]Life Sciences [q-bio], General Physics and Astronomy, Prefrontal Cortex, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, Predictive markers, Brain mapping, General Biochemistry, Genetics and Molecular Biology, Article, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Reward, Mesencephalon, medicine, Humans, Longitudinal Studies, Prefrontal cortex, Brain Mapping, Motivation, Multidisciplinary, Ventral striatum, Novelty seeking, Conscientiousness, General Chemistry, medicine.disease, Anticipation, Psychological, Anticipation, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], Dorsolateral prefrontal cortex, Substance abuse, 030104 developmental biology, medicine.anatomical_structure, Risk factors, Impulsive Behavior, Ventral Striatum, Exploratory Behavior, Female, Psychology, 030217 neurology & neurosurgery
Abstract: Novelty-seeking tendencies in adolescents may promote innovation as well as problematic impulsive behaviour, including drug abuse. Previous research has not clarified whether neural hyper- or hypo-responsiveness to anticipated rewards promotes vulnerability in these individuals. Here we use a longitudinal design to track 144 novelty-seeking adolescents at age 14 and 16 to determine whether neural activity in response to anticipated rewards predicts problematic drug use. We find that diminished BOLD activity in mesolimbic (ventral striatal and midbrain) and prefrontal cortical (dorsolateral prefrontal cortex) regions during reward anticipation at age 14 predicts problematic drug use at age 16. Lower psychometric conscientiousness and steeper discounting of future rewards at age 14 also predicts problematic drug use at age 16, but the neural responses independently predict more variance than psychometric measures. Together, these findings suggest that diminished neural responses to anticipated rewards in novelty-seeking adolescents may increase vulnerability to future problematic drug use., This article has been published in a revised form in Nature Communications [DOI: 10.1038/ncomms14140]. This version is free to view and download for private research and study only. © Nature Communications
Published: 2017

50. Randomized parcellation based inference

Author: Vincent Frouin, Tomáš Paus, Jean-Luc Martinot, Gareth J. Barker, Marcella Rietschel, Gaël Varoquaux, Patricia J. Conrod, Jean-Baptiste Poline, Uli Bromberg, Arun L.W. Bokde, Frauke Nees, Jürgen Gallinat, Bertrand Thirion, Virgile Fritsch, Tobias Banaschewski, Andreas Ströhle, Michael N. Smolka, Zdenka Pausova, Hugh Garavan, Benoit Da Mota, Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Laboratoire de Neuroimagerie Assistée par Ordinateur (LNAO), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Department of Child and Adolescent Psychiatry and Psychotherapy [Mannheim], Universität Heidelberg [Heidelberg] = Heidelberg University, Institute of Psychiatry, King‘s College London, Institute of Neuroscience, Trinity College Dublin-Trinity College Dublin-Discipline of Psychiatry [Dublin], School of Medicine [Dublin], Trinity College Dublin-Trinity College Dublin-School of Medicine [Dublin], Trinity College Dublin, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Institute of Psychiatry, Psychology & Neuroscience, King's College London, Department of Psychiatry and Psychotherapy, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of Vermont [Burlington], Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Rotman Research Institute at the Baycrest Centre (RRI), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], School of Psychology [Nottingham], University of Nottingham, UK (UON), SickKids - The Hospital for sick children, The Hospital for sick children [Toronto] (SickKids), Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg] = Heidelberg University-Central Institute of Mental Health Mannheim, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Digitéo (HiDiNim project and ICoGeN project), Imagen Consortium, European Project: 39513,IMAGEN, Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Universität Heidelberg [Heidelberg], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11), Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Fritsch, Virgile, and Reinforcement-related behaviour in normal brain function and psychopathology - IMAGEN - 39513 - OLD
Subjects: [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, permutations, Cognitive Neuroscience, [INFO.INFO-IM] Computer Science [cs]/Medical Imaging, Inference, Neuroimaging, Stop signal, Catechol O-Methyltransferase, computer.software_genre, Polymorphism, Single Nucleotide, [STAT.AP] Statistics [stat]/Applications [stat.AP], Voxel, Resampling, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, medicine, Cluster Analysis, Humans, Computer Simulation, reproducibility, Genetic Association Studies, multiple comparisons, [STAT.AP]Statistics [stat]/Applications [stat.AP], medicine.diagnostic_test, business.industry, Brain, Contrast (statistics), Pattern recognition, Magnetic Resonance Imaging, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Neurology, group analysis, parcellation, Multiple comparisons problem, Data mining, Artificial intelligence, Functional magnetic resonance imaging, Psychology, business, computer
Abstract: International audience; Neuroimaging group analyses are used to relate inter-subject signal differences observed in brain imaging with behavioral or genetic variables and to assess risks factors of brain diseases. The lack of stability and of sensitivity of current voxel-based analysis schemes may however lead to non-reproducible results. We introduce a new approach to overcome the limitations of standard methods, in which active voxels are detected according to a consensus on several random parcellations of the brain images, while a permutation test controls the false positive risk. Both on synthetic and real data, this approach shows higher sensitivity, better accuracy and higher reproducibility than state-of-the-art methods. In a neuroimaging-genetic application, we find that it succeeds in detecting a significant association between a genetic variant next to the COMT gene and the BOLD signal in the left thalamus for a functional Magnetic Resonance Imaging contrast associated with incorrect responses of the subjects from a Stop Signal Task protocol.
Published: 2014

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