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39 results on '"Nadine Girard"'

1. Exploring the heterogeneous morphometric data in essential tremor with probabilistic modelling

Author: Thomas A W, Bolton, Dimitri, Van De Ville, Jean, Régis, Tatiana, Witjas, Nadine, Girard, Marc, Levivier, Constantin, Tuleasca, Department of Clinical Neurosciences, Neurosurgery Service and Gamma Knife Center, Centre Hospitalier Universitaire Vaudois, Lausanne, Centre de résonance magnétique biologique et médicale (CRMBM), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: structural covariance, surface -based morphometry, Humans, Essential Tremor/diagnostic imaging, Magnetic Resonance Imaging/methods, Brain/diagnostic imaging, Tremor, Brain Mapping/methods, Cortical thickness, Essential tremor, Gaussian mixture model, Hand tremor, Head tremor, Heterogeneity, Mean curvature, Multivariate Gaussian, Surface area, Surface-based morphometry, Cognitive Neuroscience, functional connectivity, mean curvature, Essential tremor Multivariate Gaussian Gaussian mixture model Surface-based morphometry Cortical thickness Surface area Mean curvature Head tremor Hand tremor Heterogeneity, surface area, gyrification, cortical thickness, head tremor, hand tremor, onset essential tremor, working-memory, surface-based analysis, Neurology, voxel-based morphometry, Radiology, Nuclear Medicine and imaging, Neurology (clinical), gaussian mixture model, heterogeneity, essential tremor, multivariate gaussian, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, human cerebral-cortex
Abstract: Essential tremor (ET) is a prevalent movement disorder characterized by marked clinical heterogeneity. Here, we explored the morphometric underpinnings of this cross-subject variability on a cohort of 34 patients with right-dominant drug-resistant ET and 29 matched healthy controls (HCs). For each brain region, group-wise morphometric data was modelled by a multivariate Gaussian to account for morphometric features' (co)variance. No group differences were found in terms of mean values, highlighting the limits of more basic group comparison approaches. Variance in surface area was higher in ET in the left lingual and caudal anterior cingulate cortices, while variance in mean curvature was lower in the right superior temporal cortex and pars triangularis, left supramarginal gyrus and bilateral paracentral gyrus. Heterogeneity further extended to the right putamen, for which a mixture of two Gaussians fitted the ET data better than a single one. Partial Least Squares analysis revealed the rich clinical relevance of the ET population's heterogeneity: first, increased head tremor and longer symptoms' duration were accompanied by broadly lower cortical gyrification. Second, more severe upper limb tremor and impairments in daily life activities characterized the patients whose morphometric profiles were more atypical compared to the average ET population, irrespective of the exact nature of the alterations. Our results provide candidate morphometric substrates for two different types of clinical variability in ET. They also demonstrate the importance of relying on analytical approaches that can efficiently handle multivariate data and enable to test more sophisticated hypotheses regarding its organization.
Published: 2022

2. Personality Assessment with Temperament and Character Inventory in Parkinson's Disease

Author: Mathilde Boussac, Christophe Arbus, Olivier Colin, Chloé Laurencin, Alexandre Eusebio, Elodie Hainque, Jean Christophe Corvol, Nathalie Versace, Olivier Rascol, Vanessa Rousseau, Estelle Harroch, Fabienne Ory-Magne, Margherita Fabbri, Caroline Moreau, Anne-Sophie Rolland, Béchir Jarraya, David Maltête, Sophie Drapier, Ana-Raquel Marques, Nicolas Auzou, Thomas Wirth, Mylène Meyer, Bruno Giordana, Mélissa Tir, Tiphaine Rouaud, David Devos, Christine Brefel-Courbon, Pr Luc Defebvre, Dr Nicolas Carriere, Dr Guillaume Grolez, Dr Guillaume Baille, Dr Kreisler, Pr Jean-Pierre Pruvo, Pr Leclerc, Dr Renaud Lopes, Dr Romain Viard, Dr Gregory Kuchcinski, Mr Julien Dumont, Pr Kathy Dujardin, Mme M. Delliaux, Mrs M. Brion, Dr Gustavo Touzet, Pr Nicolas Reyns, Pr Arnaud Delval, Mrs Valerie Santraine, Mrs Marie Pleuvret, Mrs Nolwen Dautrevaux, Mr Victor Laugeais, Thavarak Ouk, Camille Potey, Celine Leclercq, Elise Gers, Jean-Christophe Corvol, null Marie-Vidailhet, Marie-Laure Welter, Lucette Lacomblez, David Grabli, Emmanuel Roze, Yulia Worbe, Cécile Delorme, Hana You, Jonas Ihle, Raquel Guimeraes-Costa, Florence Cormier-Dequaire, Aurélie Méneret, Andréas Hartmann, Louise-Laure Mariani, Stéphane Lehericy, Virginie Czernecki, Fanny Pineau, Frédérique Bozon, Camille Huiban, Eve Benchetrit, Carine Karachi, Soledad Navarro, Philippe Cornu, Arlette Welaratne, Carole Dongmo-Kenfack, Lise Mantisi, Nathalie Jarry, Sophie Aix, Carine Lefort, Dr Tiphaine Rouaud, Pr Philippe Damier, Pr Pascal Derkinderen, Dr Anne-Gaelle Corbille, Dr Elisabeth Calvier-Auffray, Mrs Laetitia Rocher, Mrs Anne-Laure Deruet, Dr Raoul Sylvie, Dr Roualdes Vincent, Mrs Le Dily Séverine, Dr Ana Marques, Dr Berangere Debilly, Pr Franck Durif, Dr Philippe Derost, Dr Charlotte Beal, Carine Chassain, Laure Delaby, Tiphaine Vidal, Pr Jean Jacques Lemaire, Isabelle Rieu, Elodie Durand, Pr Alexandre Eusebio, Pr Jean-Philippe Azulay, Dr Tatiana Witjas, Dr Frédérique Fluchère, Dr Stephan Grimaldi, Pr Nadine Girard, Marie Delfini, Dr Romain Carron, Pr Jean Regis, Dr Giorgio Spatola, Camille Magnaudet, Dr Ansquer Solène, Dr Benatru Isabelle, Dr Colin Olivier, Pr Houeto Jl, Pr Guillevin Remy, Mrs Fradet Anne, Mrs Anziza Manssouri, Mrs Blondeau Sophie, Dr Richard Philippe, Dr Cam Philippe, Dr Page Philippe, Pr Bataille Benoit, Mrs Rabois Emilie, Mrs Guillemain Annie, Dr Drapier Sophie, Dr Frédérique Leh, Dr Alexandre Bonnet, Pr Marc Vérin, Dr Jean-Christophe Ferré, Mr Jean François Houvenaghel, Pr Claire Haegelen, Mrs Francoise Kestens, Mrs Solenn Ory, Pr Pierre Burbaud, Dr Nathalie Damon-Perriere, Pr Wassilios Meissner, Pr Francois Tison, Dr Stéphanie Bannier, Dr Elsa Krim, Pr Dominique Guehl, Sandrine Molinier-Blossier, Morgan Ollivier, Marion Lacoste, Marie Bonnet, Pr Emmanuel Cuny, Dr Julien Engelhardt, Olivier Branchard, Clotilde Huet, Julie Blanchard, Pr Rascol Olivier, Dr Christine Brefel Courbon, Dr Fabienne Ory Magne, Dr Marion Simonetta Moreau, Pr Christophe Arbus, Pr Fabrice Bonneville, Dr Jean Albert Lotterie, Marion Sarrail, Charlotte Scotto d’Apollonia, Pr Patrick Chaynes, Pr François Caire, Pr David Maltete, Dr Romain Lefaucheur, Dr Damien Fetter, Dr Nicolas Magne, Mrs Sandrine Bioux, Mrs Maud Loubeyre, Mrs Evangéline Bliaux, Mrs Dorothée Pouliquen, Pr Stéphane Derrey, Mrs Linda Vernon, Dr Frédéric Ziegler, Mathieu Anheim, Ouhaid Lagha-Boukbiza, Christine Tranchant, Odile Gebus, Solveig Montaut, S. Kremer, Nadine Longato, Clélie Phillips, Jimmy Voirin, Marie des Neiges Santin, Dominique Chaussemy, Dr Amaury Mengin, Dr Caroline Giordana, Dr Claire Marsé, Lydiane Mondot, Robin Kardous, Bernadette Bailet, Héloise Joly, Denys Fontaine, Dr Aurélie Leplus, Amélie Faustini, Vanessa Ferrier, Pr Pierre Krystkowiak, Dr Mélissa Tir, Pr Jean-Marc Constans, Sandrine Wannepain, Audrey Seling, Dr Michel Lefranc, Stéphanie Blin, Béatrice Schuler, Pr Stephane Thobois, Dr Teodor Danaila, Dr Chloe Laurencin, Pr Yves Berthezene, Dr Roxana Ameli, Helene Klinger, Dr Gustavo Polo, Patrick Mertens, A. Nunes, Elise Metereau, Dr Lucie Hopes, Dr Solène Frismand, Dr Emmanuelle Schmitt, Mrs Mylène Meyer, Mrs Céline Dillier, Pr Sophie Colnat, Mrs Anne Chatelain, Dr Jean- Philippe Brandel, Dr Cécile Hubsch, Dr Patte Karsenti, Dr Marie Lebouteux, Dr Marc Ziegler, Dr Christine Delmaire, Dr Julien Savatowky, Mrs Juliette Vrillac, Mrs Claire Nakache, Dr Vincent D'Hardemare, Mr Lhaouas Belamri, Dr Valérie Mesnage, Dr Cécilia Bonnet, Dr Jarbas Correa Lino, Dr Camille Decrocq, Dr Anne Boulin, Mrs Inès Barre, Mrs Jordane Manouvrier, Dr Bérénice Gardel, Pr Béchir Jarraya, Mrs Catherine Ziz, Mrs Lydie Prette, Mr Hassen Douzane, David Gay, Robin Bonicel, Fouzia El Mountassir, Clara Fischer, Jean-François Mangin, Marie Chupin, Yann Cointepas, Bertrand Accart, Patrick Gelé, Florine Fievet, Matthieu Chabel, Virginie Derenaucourt, Loïc Facon, Yanick Tchantchou Njosse, Dominique Deplanque, Alain Duhamel, Lynda Djemmane, Florence Duflot, Toulouse Neuro Imaging Center (ToNIC), 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)-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), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier de Brive-la-Gaillarde (CH Brive), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (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), Université de Lyon, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), CHU Marseille, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Fondation Ophtalmologique Adolphe de Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d’Excellence en Maladies Neurodégénératives (NeuroToul), CIC - Biotherapie - Toulouse, Institut National de la Santé et de la Recherche Médicale (INSERM), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Lille, 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), Hôpital Foch [Suresnes], Neuroimagerie cognitive - Psychologie cognitive expérimentale (UNICOG-U992), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA), Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), CHU Bordeaux [Bordeaux], Les Hôpitaux Universitaires de Strasbourg (HUS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Centre hospitalier universitaire de Nantes (CHU Nantes), This work was supported by the France Parkinson charity and French Ministry of Health (PHRC national 2012). This is an ancillary study to Protocol ID: 2013-A00193-42, ClinicalTrials.gov: NCT02360683., Centre Hospitalier Brive-la-Gaillarde, and Hôpital P.P.-Riquet
Subjects: Personality Inventory, Temperament and character inventory, Parkinson's disease, Parkinson Disease, Personality Assessment, Antidepressive Agents, Neurology, Anti-Anxiety Agents, Fluctuating PD patients, Quality of Life, Humans, Neurology (clinical), Geriatrics and Gerontology, Temperament, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Personality
Abstract: International audience; INTRODUCTION: There is a growing interest in personality evaluation in Parkinson's disease (PD), following observations of specific temperaments in PD patients. Therefore, our objective was to evaluate personality dimensions from the Temperament and Character Inventory (TCI) in a cohort of fluctuating PD patients considered for deep brain stimulation. METHODS: Fluctuating PD patients from the PREDISTIM cohort were included. Description of TCI dimensions and comparison with a French normative cohort were performed. Pearson correlations between TCI dimensions and motor, behavioral and cognitive variables were investigated. Structural and internal consistency analysis of the TCI were further assessed. RESULTS: The 570 PD patients presented significant higher scores in Harm Avoidance, Reward Dependence, Persistence, Self-Directedness and Cooperativeness and significant lower scores in Self-Transcendence compared to the French normative cohort; only Novelty Seeking scores were not different. Harm Avoidance and Self-directedness scores were correlated with PDQ-39 total, HAMD, HAMA scores, and anxiolytic/antidepressant treatment. Novelty Seeking scores were correlated with impulsivity. Pearson correlations between TCI dimensions, principal component analysis of TCI sub-dimensions and Cronbach's alpha coefficients showed adequate psychometric proprieties. CONCLUSION: The TCI seems to be an adequate tool to evaluate personality dimensions in PD with good structural and internal consistencies. These fluctuating PD patients also have specific personality dimensions compared to normative French population. Moreover, Harm Avoidance and Self-Directedness scores are associated with anxio-depressive state or quality of life and, and Novelty Seeking scores with impulsivity.
Published: 2022

3. Borrowing strength from adults: Transferability of AI algorithms for paediatric brain and tumour segmentation

Author: Maxime, Drai, Benoit, Testud, Gilles, Brun, Jean-François, Hak, Didier, Scavarda, Nadine, Girard, Jan-Patrick, Stellmann, Department of Neuroradiology, APHM La Timone, Marseille, France, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), department of pediatric neurosurgery APHM CHU Timone, Institut de Neurosciences des Systèmes (INS), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, Brain Neoplasms, Brain, Glioma, General Medicine, Magnetic Resonance Imaging, Artificial Intelligence, Image Processing, Computer-Assisted, Humans, Radiology, Nuclear Medicine and imaging, Child, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, Algorithms, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Retrospective Studies
Abstract: AI brain tumour segmentation and brain extraction algorithms promise better diagnostic and follow-up of brain tumours in adults. The development of such tools for paediatric populations is restricted by limited training data but careful adaption of adult algorithms to paediatric population might be a solution. Here, we aim exploring the transferability of algorithms for brain (HD-BET) and tumour segmentation (HD-GLIOMA) in adults to paediatric imaging studies.In a retrospective cohort, we compared automated segmentation with expert masks. We used the dice coefficient for evaluating the similarity and multivariate regressions for the influence of covariates. We explored the feasibility of automatic tumor classification based on diffusion data.In 42 patients (mean age 7 years, 9 below 2 years, 26 males), segmentation was excellent for brain extraction (mean dice 0.99, range 0.85-1), moderate for segmentation of contrast-enhancing tumours (mean dice 0.67, range 0-1), and weak for non-enhancing T2-signal abnormalities (mean dice 0.41). Precision was better for enhancing tumour parts (p 0.001) and for malignant histology (p = 0.006 and p = 0.012) but independent from myelinisation as indicated by the age (p = 0.472). Automated tumour grading based on mean diffusivity (MD) values from automated masks was good (AUC = 0.86) but tended to be less accurate than MD values from expert masks (AUC = 1, p = 0.208).HD-BET provides a reliable extraction of the paediatric brain. HD-GLIOMA works moderately for contrast-enhancing tumours parts. Without optimization, brain tumor AI algorithms trained on adults and used on paediatric patients may yield acceptable results depending on the clinical scenario.
Published: 2022

4. Automatic segmentation of deep grey nuclei using a high‐resolution 7T magnetic resonance imaging atlas—Quantification of T1 values in healthy volunteers

Author: Gilles Brun, Benoit Testud, Olivier M. Girard, Pierre Lehmann, Ludovic de Rochefort, Pierre Besson, Aurélien Massire, Ben Ridley, Nadine Girard, Maxime Guye, Jean‐Philippe Ranjeva, Arnaud Le Troter, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), and Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Brain Mapping, T1 relaxometry, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, General Neuroscience, Ultra-high field, Template, 7Tesla, Brain, Magnetic Resonance Imaging, Healthy Volunteers, 030218 nuclear medicine & medical imaging, MP2RAGE, Shape-Based Averaging, 03 medical and health sciences, 0302 clinical medicine, Deep Grey Nuclei, Thalamic Nuclei, Image Processing, Computer-Assisted, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, 030217 neurology & neurosurgery, Consensus-Atlas
Abstract: International audience; We present a new consensus atlas of deep grey nuclei obtained by shape-based averaging of manual segmentation of two experienced neuroradiologists and optimized from 7T MP2RAGE images acquired at (0.6mm) 3 in 60 healthy subjects. A group-wise normalization method was used to build a high-contrast and high-resolution T1-weighted brain template (0.5mm) 3 using data from 30 out of the 60 controls. Delineation of 24 deep grey nuclei per hemisphere, including the claustrum and twelve thalamic nuclei, was then performed by two expert neuroradiologists and reviewed by a third neuroradiologist according to tissue contrast and external references based on the Morel atlas. Corresponding deep grey matter structures were also extracted from the Morel and CIT168 atlases. The data-derived, Morel and CIT168 atlases were all applied at the individual level using non-linear registration to fit the subject reference and to extract absolute mean quantitative T1 values derived from the 3D-MP2RAGE volumes, after correction for residual B1 + biases. Three metrics (The Dice and the volumetric similarity coefficients, and a novel Hausdorff distance) were used to estimate the inter-rater agreement of manual MRI segmentation and inter-atlas variability, and these metrics were measured to quantify biases due to image registration and their impact on the measurements of the quantitative T1 values was highlighted. This represents a fully-automated segmentation process permitting the extraction of unbiased normative T1 values in a population of young healthy controls as a reference for characterizing subtle structural alterations of deep grey nuclei relevant to a range of neurological diseases.
Published: 2022

5. Intellectual outcome from 1 to 5 years after epilepsy surgery in 81 children and adolescents: A longitudinal study

Author: Fabrice Bartolomei, Nathalie Villeneuve, Aileen McGonigal, Agnès Trébuchon, Nadine Girard, Beatrice Desnous, Géraldine Daquin, Didier Scavarda, Julien Mancini, Virginie Laguitton, Mathieu Milh, Anne Lépine, Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biostatistique et technologies de l'information et de la communication (BioSTIC) - [Hôpital de la Timone - APHM] (BiosTIC ), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), and Malbec, Odile
Subjects: Pediatrics, medicine.medical_specialty, Longitudinal study, Adolescent, [SDV]Life Sciences [q-bio], Seizure outcome, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Epilepsy surgery, 030225 pediatrics, medicine, Humans, Longitudinal Studies, Child, Intelligence Tests, Intelligence quotient, business.industry, Neuropsychology, Wechsler Adult Intelligence Scale, General Medicine, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Treatment Outcome, Extratemporal epilepsy, Neurology, Cohort, Neurology (clinical), Neurosurgery, Epilepsies, Partial, business, Temporal epilepsy, Intellectual outcome, 030217 neurology & neurosurgery
Abstract: International audience; Objective: This longitudinal study aimed to measure the time course of intellectual changes after pediatric focal resective epilepsy surgery and to identify their predictors.Methods: We analyzed a cohort of 81 school-aged children with focal epilepsy and intractable seizures who underwent neurosurgery (focal resection) from 2000 to 2018 in La Timone Hospital (Marseille). Neuropsychological assessments were carried out before and then 1, 2, 3, and 5 years after epilepsy surgery.Results: Eighty-one patients with a median age at surgery of 13.74 years [4.25] were enrolled. Overall, 45 of the 81 (55%) recruited patients were improved after the surgery on at least one of the five domains of the Wechsler Intelligence Scale. Temporal lobe localization and postoperative seizure freedom were the main prognostic factors impacting intellectual outcome (improvement and decline) after epilepsy surgery. Younger patients at surgery were less likely to have a postoperative IQ decline. Intellectual improvement after epilepsy surgery could be delayed for up to 5 years after surgery and concerned all intellectual domains except the Verbal Comprehension Index (VCI). Intellectual decline after epilepsy surgery occurred mainly during the first two years after the surgery and was reflected in full-scale intelligence quotient (FSIQ) and Working Memory Index (WMI).Conclusions: Our study points out that children and adolescents with TLE who achieved freedom from seizure after epilepsy surgery are the leading candidates for achieving postoperative intellectual improvement. This enhancement in intellectual function shows a long time course, whereas intellectual decline is evidenced earlier.
Published: 2021

6. A Retrospective Case Series Analysis of the Relationship Between Phenylalanine: Tyrosine Ratio and Cerebral Glucose Metabolism in Classical Phenylketonuria and Hyperphenylalaninemia

Author: Colm J. McGinnity, Daniela A. Riaño Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Helen Walker, Sally F. Barrington, Mary Summers, Mervi Pitkanen, Yusof Rahman, Service de médecine nucléaire [Marseille], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Institut FRESNEL (FRESNEL), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), and Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: 0301 basic medicine, medicine.medical_specialty, Cerebral glucose metabolism, phenylketonuria, Phenylalanine+Tyrosine, Neurosciences. Biological psychiatry. Neuropsychiatry, Phenylalanine, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, Internal medicine, Classical phenylketonuria, phenylalanine:tyrosine ratio, Medicine, In patient, Phenylketonuria (PKU), Tyrosine, [18F]fluorodeoxyglucose PET, hyperphenylalaninemia, business.industry, General Neuroscience, intellectual function, Brief Research Report, medicine.disease, 030104 developmental biology, Endocrinology, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Neuroscience, RC321-571
Abstract: We retrospectively examined the relationship between blood biomarkers, in particular the historical mean phenylalanine to tyrosine (Phe:Tyr) ratio, and cerebral glucose metabolism. We hypothesized that the historical mean Phe:Tyr ratio would be more predictive of cerebral glucose metabolism than the phenylalanine (Phe) level alone. We performed a retrospective case series analysis involving 11 adult classical phenylketonuria/hyperphenylalaninemia patients under the care of an Inherited Metabolic & Neuropsychiatry Clinic who had complained of memory problems, collating casenote data from blood biochemistry, and clinical [18F]fluorodeoxyglucose positron emission tomography ([18F]FDG PET). The Phe:Tyr ratio was calculated for individual blood samples and summarized as historical mean Phe:Tyr ratio (Phe:Tyr) and historical standard deviation in Phe:Tyr ratio (SD-Phe:Tyr), for each patient. Visual analyses of [18F]FDG PET revealed heterogeneous patterns of glucose hypometabolism for eight patients. [18F]FDG PET standardized uptake was negatively correlated with Phe in a large cluster with peak localized to right superior parietal gyrus. Even larger clusters of negative correlation that encompassed most of the brain, with frontal peaks, were observed with Phe:Tyr, and SD-Phe:Tyr. Our case series analysis provides further evidence for the association between blood biomarkers, and cerebral glucose hypometabolism. Mean historical blood Phe:Tyr ratio, and its standard deviation over time, appear to be more indicative of global cerebral glucose metabolism in patients with memory problems than Phe.
Published: 2021

7. Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

Author: Phil Riley, Gérard Chéron, Laureline Berteloot, Gilbert Vézina, Bryan Philbrook, Camilla Lindan, Kelsey E. Poisson, Yi Li, Shubra Pagariya, Fabiana C.C. Hirata, David Grevent, Judith Chareyre, Amna Kashgari, D. Gareth Evans, A Romsauerova, Marianne Leruez-Vill, Sniya Valsa Sudhakar, Thomas Blauwblomme, Loic De-Pontual, Larry K. Kociolek, Lokesh Lingappa, Charlies-Joris Roux, Ah Young Jung, Shilpa Kulkarni, Olivia Carney, Suely Fazio Ferraciolli, Ian Kamaly-Asl, Fabrício Guimarães Gonçalves, Fabrice Lesage, Suraj Amonkar, Jeffrey Jacob, Nadine Girard, Pascale Aouad, Robin Joseph, John-Paul Kilday, Alyssa Kirsch, Jose Alejandro Bacalla, Mélodie Aubart, Gilles Brun, Kshitij Mankad, Ulrike Löbel, Gaurav Saigal, Isabelle Sermet-Gaudelus, Wissam Elfallal, Pablo Picasso De Araujo Coimbra, Volodia Dangouloff-Ros, Jane Hassell, Robert A. Dineen, Roberto Lopez-Alberola, D. Ram, Jonathan G. Murnick, David Seidenwurm, Felice D'Arco, Jai Sidpra, Romain Basmaci, María Sol Toronchik, Nihaal Reddy, Manoelle Kossorotoff, Carlos Rugilo, Gabriel Lucca de Oliveira Salvador, Daniela Duarte Moreira, Sameen Akhtar, Sarah Nahmani, Raphaël Levy, Isabelle Desguerre, Julija Pavaine, Leandro Tavares Lucato, Kandise Jackson, Douglas Alden, Susan Palasis, Blaise V. Jones, Ana Cláudia Piovesan, P. Ellen Grant, Carolina Valduga de Alencastro Guimaraes, Stavros Stivaros, Ivan A. Gonzalez, V. Michelle Silvera, Anant Krishnan, Carol Cavalcante de Vasconcelos Lima, Nathalie Boddaert, Alcino A Barbosa, Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de résonance magnétique biologique et médicale (CRMBM), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Encephalopathy, Argentina, Saudi Arabia, India, Myelitis, Neuroimaging, Disease, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, 030225 pediatrics, Peru, Developmental and Educational Psychology, Humans, Medicine, Pediatrics, Perinatology, and Child Health, 030212 general & internal medicine, Child, Myositis, ComputingMilieux_MISCELLANEOUS, Neuroradiology, Brain Diseases, Coinfection, SARS-CoV-2, business.industry, Encephalomyelitis, Acute Disseminated, COVID-19, Infant, Articles, medicine.disease, Systemic Inflammatory Response Syndrome, United Kingdom, United States, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, France, business, Splenial, Brazil
Abstract: Summary Background The CNS manifestations of COVID-19 in children have primarily been described in case reports, which limit the ability to appreciate the full spectrum of the disease in paediatric patients. We aimed to identify enough cases that could be evaluated in aggregate to better understand the neuroimaging manifestations of COVID-19 in the paediatric population. Methods An international call for cases of children with encephalopathy related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and abnormal neuroimaging findings was made. Clinical history and associated plasma and cerebrospinal fluid data were requested. These data were reviewed by a central neuroradiology panel, a child neurologist, and a paediatric infectious diseases expert. The children were categorised on the basis of their time of probable exposure to SARS-CoV-2. In addition, cases were excluded when a direct link to SARS-CoV-2 infection could not be established or an established alternate diagnostic cause could be hypothesised. The accepted referral centre imaging data, from ten countries, were remotely reviewed by a central panel of five paediatric neuroradiologists and a consensus opinion obtained on the imaging findings. Findings 38 children with neurological disease related to SARS-CoV-2 infection were identified from France (n=13), the UK (n=8), the USA (n=5), Brazil (n=4), Argentina (n=4), India (n=2), Peru (n=1), and Saudi Arabia (n=1). Recurring patterns of disease were identified, with neuroimaging abnormalities ranging from mild to severe. The most common imaging patterns were postinfectious immune-mediated acute disseminated encephalomyelitis-like changes of the brain (16 patients), myelitis (eight patients), and neural enhancement (13 patients). Cranial nerve enhancement could occur in the absence of corresponding neurological symptoms. Splenial lesions (seven patients) and myositis (four patients) were predominantly observed in children with multisystem inflammatory syndrome. Cerebrovascular complications in children were less common than in adults. Significant pre-existing conditions were absent and most children had favourable outcomes. However, fatal atypical CNS co-infections developed in four previously healthy children infected with SARS-CoV-2. Interpretation Acute-phase and delayed-phase SARS-CoV-2-related CNS abnormalities are seen in children. Recurring patterns of disease and atypical neuroimaging manifestations can be found and should be recognised being as potentially due to SARS-CoV-2 infection as an underlying aetiological factor. Studies of paediatric specific cohorts are needed to better understand the effects of SARS-CoV-2 infection on the CNS at presentation and on long-term follow-up in children. Funding American Society of Pediatric Neuroradiology, University of Manchester (Manchester, UK). Video Abstract Neuroimaging manifestations in children with SARS-CoV-2 infection
Published: 2021

8. Pediatric Brain Arteriovenous Malformation Recurrence: A Cohort Study, Systematic Review and Meta-Analysis

Author: Florent Gariel, Thomas Blauwblomme, Volodia Dangouloff-Ros, Lorenzo Garzelli, Gregoire Boulouis, Basile Kerleroux, Nathalie Boddaert, Olivier Naggara, Manoelle Kossorotoff, Francis Brunelle, Vincent Vidal, Nadine Girard, Sarah Stricker, Jean-François Hak, Heather J. Fullerton, Philippe Meyer, Sandro Benichi, Steven W. Hetts, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Intracranial Arteriovenous Malformations, medicine.medical_specialty, medicine.medical_treatment, Radiosurgery, Cohort Studies, Recurrence, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Medicine, Humans, snc, Child, Stroke, Retrospective Studies, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Brain, Arteriovenous malformation, General Medicine, medicine.disease, Surgery, Treatment Outcome, Pediatric brain, Relative risk, Meta-analysis, Cohort, Neurology (clinical), business, Cohort study, Follow-Up Studies
Abstract: BackgroundRecurrence following obliteration of brain arteriovenous malformations (AVMs) is common in children surgically treated, but recurrences following endovascular (EVT) and radiosurgical approaches are scantily reported.ObjectiveTo analyze the rates and risk factors for AVM recurrence after obliteration in a single-center cohort of children with ruptured AVMs treated with multimodal approaches, and to carry out a comprehensive review and meta-analysis of current data.MethodsChildren with ruptured AVMs between 2000 and 2019 enrolled in a prospective registry were retrospectively screened and included after angiographically determined obliteration to differentiate children with/without recurrence. A complementary systematic review and meta-analysis of studies investigating AVM recurrence in children between 2000 and 2020 was aggregated to explore the overall recurrence rates across treatment modalities by analyzing surgery versus other treatments.ResultsSeventy children with obliterated AVMs were included. AVM recurrences (n=10) were more commonly treated with EVT as final treatment (60% in the recurrence vs 13.3% in the no-recurrence group, p=0.018). Infratentorial locations were associated with earlier and more frequent recurrences (adjusted relative risk=4.62, 95% CI 1.08 to 19.04; p=0.04).In the aggregate analysis, the pooled rate of AVM recurrence was 10.9% (95% CI 8.7% to 13.5%). Younger age at presentation was associated with more frequent recurrences (RR per year increase, 0.97, 95% CI 0.93 to 0.99; p=0.046).ConclusionLocation of infratentorial AVMs and younger age at presentation may be associated with earlier and more frequent recurrences. The higher rates of recurrence in patients with AVMs obliterated with EVT questions its role in an intent-to-cure approach and reinforces its position as an adjunct to surgery and/or radiosurgery.
Published: 2021

9. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review

Author: Aline Cano, Mathieu Milh, Pierre Cacciagli, Brigitte Chabrol, M.-V. André, Laurent Villard, M. Roussel, L. Vaugier, Nadine Girard, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Early developmental and epileptic encephalopathy, Pediatrics, medicine.medical_specialty, Developmental Disabilities, [SDV]Life Sciences [q-bio], Encephalopathy, Genes, Recessive, Neonatal onset, Electroencephalography, Mitochondrial Membrane Transport Proteins, Suppression-burst, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Myoclonic Seizures, 030225 pediatrics, Interictal eeg, medicine, Humans, Child, Myoclonic seizures, Brain Diseases, [SDV.GEN]Life Sciences [q-bio]/Genetics, medicine.diagnostic_test, business.industry, Epileptic encephalopathy, Homozygote, Infant, Newborn, SLC25A22, Infant, medicine.disease, Phenotype, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, business
Abstract: International audience; We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of mitochondrial glutamate/H+ symporter SLC25A22. Epilepsy began during the first week of life with focal onset seizures. Interictal EEG revealed a suppression-burst pattern with extensive periods of non-activity. The prospective follow-up confirmed developmental encephalopathy as well as ongoing active epilepsy and almost no sign of development at 8 years of age. We confirm in the following paper that SLC25A22 recessive variations may cause a severe developmental and epileptic encephalopathy characterized by a suppression-burst pattern. On the basis of an in-depth literature review, we also provide an overview of this rare genetic cause of neonatal onset epilepsy.
Published: 2021

10. Description of a Giant Hypothalamic Hamartoma Associated with an Immature Ruptured Giant Sacrococcygeal Teratoma: A Case Report

Author: Didier Scavarda, Nicolas André, André Maues De Paula, Nicolas Serratrice, Alice Faure, Nadine Girard, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, and Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, medicine.medical_specialty, Pathology, Hamartoma, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Hypothalamic hamartoma, Pregnancy, Gelastic seizure, Biopsy, medicine, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, snc, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Spinal Neoplasms, medicine.diagnostic_test, Sacrococcygeal Region, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Infant, Newborn, Teratoma, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, Immature teratoma, Neurology (clinical), Neurosurgery, medicine.symptom, Sacrococcygeal teratoma, business, Hypothalamic Diseases, 030217 neurology & neurosurgery
Abstract: Giant hypothalamic hamartomas (GHH) are rare neonatal intracerebral congenital malformations responsible for gelastic epilepsy and/or endocrine disturbances. Sacrococcygeal teratomas (SCT) are fetal neoplasms associated with perinatal morbidity and mortality, especially hemorrhagic complications in giant examples (GSCT). Here, we describe an immature ruptured GSCT complicated by hemorrhagic shock at 32-week gestation boy requiring an emergency delivery, followed immediately by urgent surgical removal. A brain lesion resembling a GHH was also present on the antenatal MRI. In order to exclude metastatic immature teratoma or glioma, a biopsy was performed by a retro-sigmoidal approach, which confirmed the nature of the hamartoma. Here, we describe for the first time the association of a ruptured immature GSCT associated with a GHH.
Published: 2021

11. From metabolic connectivity to molecular connectivity: application to dopaminergic pathways

Author: Manon Bordonne, Antoine Verger, Nadine Girard, Jean-Philippe Azulay, Alexandre Eusebio, Mohammad B. Chawki, Tatiana Horowitz, Eric Guedj, Service de Médecine Nucléaire [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Imagerie Adaptative Diagnostique et Interventionnelle (IADI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Nancyclotep- Experimental Imaging Platform = Plate-forme d'imagerie moléculaire, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Université de Lorraine (UL), Hôpital de la Timone [CHU - APHM] (TIMONE), Institut FRESNEL (FRESNEL), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service de médecine nucléaire [Marseille], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service Central de Biophysique et de Médecine Nucléaire, Service de Médecine Nucléaire [Nancy], Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU), and Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)
Subjects: Dopamine, Single-photon emission computed tomography, Biology, computer.software_genre, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Voxel, Iodine-123, medicine, Humans, Radiology, Nuclear Medicine and imaging, neurotransmission, Tomography, Emission-Computed, Single-Photon, Dopamine Plasma Membrane Transport Proteins, Connectivity, medicine.diagnostic_test, Dopaminergic, Binding potential, dopaminergic pathways, Parkinson Disease, General Medicine, molecular imaging, medicine.anatomical_structure, PET, Dopaminergic pathways, Positron-Emission Tomography, 030220 oncology & carcinogenesis, SPECT, Radiopharmaceuticals, Molecular imaging, Neuroscience, computer, metabolism, Emission computed tomography, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Introduction: This study aims to reveal the feasibility and potential of molecular connectivity based on neurotransmission in comparison with the metabolic connectivity with an application to dopaminergic pathways. For this purpose, we propose to compare the neurotransmission connectivity findings using 123I-FP-CIT SPECT and 18F-FDOPA PET with the metabolic connectivity findings using 18F-FDG PET.Methods: 18F-FDG PET and 123I-FP-CIT SPECT images from 47 subjects and 18F-FDOPA PET images from 177 subjects, who had no neurological or psychiatric disorders, were studied. Interregional correlation analyses were performed at the group level to determine the midbrain's connectivity via glucose metabolic rate using 18F-FDG PET and via dopaminergic binding potential using 123I-FP-CIT SPECT and 18F-FDOPA PET. SPM-T maps of each radiotracer were generated, and masks used to highlight the significant differences obtained among the imaging modalities and targets.Results: The three dopaminergic pathways (i.e., nigrostriatal, mesolimbic, and mesocortical) were identified by 18F-FDG PET (1599 voxels, with a Tmax value of 12.6), 123I-FP-CIT SPECT (1120 voxels, with Tmax value of 5.1), and 18F-FDOPA PET (6054 voxels, with Tmax value of 11.7) for a T voxel threshold of 5.10, 2.80, and 5.10, respectively. Using the same T voxel threshold of 5.10, 18F-FDOPA PET showed more specific findings than 18F-FDG PET with less voxels identified outside these pathways (- 9323 voxels), whereas no significant voxels were obtained with 123I-FP-CIT SPECT at this threshold.Conclusion: The present study illustrates the feasibility and interest in using molecular connectivity with 18F-FDOPA PET for dopaminergic pathways. Such analyses could be applied to specific diseases involving the dopaminergic system.
Published: 2020

12. Neuro-radiological characteristics of adult diffuse grade II and III insular gliomas classified according to WHO 2016

Author: Olivier Chinot, Paloma Compes, Dominique Figarella-Branger, Nicolas Cordier, Philippe Metellus, Emeline Tabouret, Nadine Girard, Jean Mosser, Romain Appay, Henry Dufour, Amandine Etcheverry, Hervé Delingette, Carole Colin, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Neuro-Oncologie [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), 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), E-Patient : Images, données & mOdèles pour la médeciNe numériquE (EPIONE), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Privé Clairval [Marseille], This work was supported by grants from Institut National du Cancer (Grant No. INCa-DGOS-Inserm 6038), from the Cancéropôle PACA (Grant No. 2015-02 INSUL802) and the GEFLUC Marseille Provence (Groupement Entreprises Françaises Lutte contre le Cancer—PVM-2014-241). We thank the AP-HM Tumor Bank (Authorization Number: AC2018-31053, CRB BB-0033-00097) for providing tissue samples. We also thank the ARTC-Sud patients’s association (Association pour le Recherche sur les Tumeurs Cérébrales)., Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), and Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Cancer Research, medicine.medical_specialty, Poor prognosis, Neurology, Insula, Vimentin, Neuroimaging, World Health Organization, Gastroenterology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Glioma, Internal medicine, Medicine, Cerebral Blood Volume, Humans, Pathological, Aged, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, biology, business.industry, Brain Neoplasms, Neuro-radiology, Molecular, Middle Aged, medicine.disease, Isocitrate Dehydrogenase, 3. Good health, Perfusion, Cerebral blood volume, Oncology, 030220 oncology & carcinogenesis, Radiological weapon, Mutation, biology.protein, Female, Neurology (clinical), Neoplasm Grading, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: International audience; IntroductionThe phenotypic heterogeneity of diffuse gliomas is still inconsistently explained by known molecular abnormalities. Here, we report the molecular and radiological features of diffuse grade WHO II and III gliomas involving the insula and its potential impact on prognosis.MethodsClinical, pathological, molecular and neuro-radiological features of 43 consecutive patients who underwent a surgical resection between 2006 and 2013 for a grade II and III gliomas involving the insula was retrospectively analyzed.ResultsMedian age was 44.4 years. Eight patients had oligodendrogliomas, IDH mutant (IDHmut) and 1p/19q-codeleted (6 grade II, 2 grade III). Twenty-eight patients had diffuse astrocytomas, IDHmut (22 grade II and 6 grade III) and seven patients had grade II diffuse astrocytomas, IDHwt (A-IDHwt). Vimentin staining was exclusively recorded in tumor cells from A-IDHwt (p = 0.001). Mean cerebral blood volume (CBV) (p = 0.018), maximal value of CBV (p = 0.017) and ratio of the corrected CBV (p = 0.022) were lower for A-IDHwt. Volumetric segmentation of ADC allowed the identification of the tumor cores, which were smaller in A-IDHwt (p
Published: 2019

13. Correction to: Neuro-radiological Characteristics of Adult Diffuse Grade II and III Insular Gliomas Classified According to WHO 2016

Author: Philippe Metellus, Nicolas Cordier, Olivier Chinot, Carole Colin, Nadine Girard, Dominique Figarella-Branger, Amandine Etcheverry, Henry Dufour, Romain Appay, Hervé Delingette, Paloma Compes, Emeline Tabouret, Jean Mosser, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Cancer Research, medicine.medical_specialty, sasnc, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Published Erratum, [SCCO.NEUR]Cognitive science/Neuroscience, MEDLINE, Neurology, Oncology, Radiological weapon, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Medicine, Neurology (clinical), Radiology, snc, business
Abstract: In the initial, online publication, the authors' given names were captured as family names and vice versa. The names are correctly shown here. The original article has been corrected.
Published: 2019

14. Letter: Deep Brain Stimulation of the Pedunculopontine Nucleus Area in Parkinson Disease: Magnetic Resonance Imaging-Based Anatomoclinical Correlations and Optimal Target

Author: Dimitri Van De Ville, Nadine Girard, Elena Najdenovska, Meritxell Bach Cuadra, Constantin Tuleasca, Jean-Philippe Thiran, Marc Levivier, Jean Régis, Tatiana Witjas, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: 0301 basic medicine, Deep brain stimulation, Deep Brain Stimulation, medicine.medical_treatment, 03 medical and health sciences, 0302 clinical medicine, Text mining, Pedunculopontine Tegmental Nucleus, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Medicine, snc, Pedunculopontine nucleus, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, medicine.diagnostic_test, business.industry, Functional connectivity, [SCCO.NEUR]Cognitive science/Neuroscience, Parkinson Disease, Magnetic resonance imaging, Magnetic Resonance Imaging, 030104 developmental biology, Surgery, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
Published: 2019

15. Letter to the Editor. Resting-state functional MRI for functional neurosurgery: seeing the light?

Author: Nadine Girard, Meritxell Bach Cuadra, Constantin Tuleasca, Marc Levivier, Jean-Philippe Thiran, Tatiana Witjas, Jean Régis, Dimitri Van De Ville, Elena Najdenovska, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Université de Lausanne (UNIL), Ecole Polytechnique Fédérale de Lausanne (EPFL), Sorbonne Université (SU), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM), Aix Marseille Université (AMU), and Université de Lausanne = University of Lausanne (UNIL)
Subjects: medicine.medical_specialty, Letter to the editor, Resting state fMRI, business.industry, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, MEDLINE, General Medicine, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery, Functional neurosurgery, tremor, 03 medical and health sciences, functional, 0302 clinical medicine, Physical medicine and rehabilitation, resting-state, Medicine, functional MRI, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030212 general & internal medicine, neurosurgery, business, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

16. SPANOL (SPectral ANalysis of Lobes): A Spectral Clustering Framework for Individual and Group Parcellation of Cortical Surfaces in Lobes

Author: Julien Lefèvre, Antonietta Pepe, Jennifer Muscato, Francois De Guio, Nadine Girard, Guillaume Auzias, David Germanaud, Aix Marseille Université (AMU), Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiopathologie des Maladies Cérébro-Vasculaires (U1161 / UMR_S 1161), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Unité de recherche en NeuroImagerie Applicative Clinique et Translationnelle (UNIACT), 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, Unité d'Epileptologie Pédiatrique, Service de Neurologie Pédiatrique et des Maladies Métaboliques, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-12-JS03-0001,MODEGY,Modèles et Descripteurs pour le développement du plissement cortical normal et pathologique(2012), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-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), Auzias, guillaume, and Jeunes Chercheuses et Jeunes Chercheurs - Modèles et Descripteurs pour le développement du plissement cortical normal et pathologique - - MODEGY2012 - ANR-12-JS03-0001 - JC - VALID
Subjects: 0301 basic medicine, Computer science, group-wise analysis, group-wise analysis Lefèvre et al SPANOL (SPectral ANalysis of Lobes), Machine learning, computer.software_genre, cortical parcellation, lcsh:RC321-571, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, fetal MRI, Laplace-Beltrami operator, Polygon mesh, Spectral analysis, Segmentation, Cortical surface, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Original Research, spectral clustering, business.industry, General Neuroscience, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, Pattern recognition, Spectral clustering, 030104 developmental biology, Brain size, A priori and a posteriori, Artificial intelligence, business, computer, 030217 neurology & neurosurgery, Neuroscience
Abstract: International audience; Understanding the link between structure, function and development in the brain is a key topic in neuroimaging that benefits from the tremendous progress of multi-modal MRI and its computational analysis. It implies, inter alia, to be able to parcellate the brain volume or cortical surface into biologically relevant regions. These parcellations may be inferred from existing atlases (e.g., Desikan) or sets of rules, as would do a neuroanatomist for lobes, but also directly driven from the data (e.g., functional or structural connectivity) with minimum a priori. In the present work, we aimed at using the intrinsic geometric information contained in the eigenfunctions of Laplace-Beltrami Operator to obtain parcellations of the cortical surface based only on its description by triangular meshes. We proposed a framework adapted from spectral clustering, which is general in scope and suitable for the co-parcellation of a group of subjects. We applied it to a dataset of 62 adults, optimized it and revealed a striking agreement between parcels produced by this unsupervised clustering and Freesurfer lobes (Desikan atlas), which cannot be explained by chance. Constituting the first reported attempt of spectral-based fully unsupervised segmentation of neuroanatomical regions such as lobes, spectral analysis of lobes (Spanol) could conveniently be fitted into a multimodal pipeline to ease, optimize or speed-up lobar or sub-lobar segmentation. In addition, we showed promising results of Spanol on smoother brains and notably on a dataset of 15 fetuses, with an interest for both the understanding of cortical ontogeny and the applicative field of perinatal computational neuroanatomy.
Published: 2018

17. Cerebral pseudotumor as the first manifestation of POEMS syndrome: A case report

Author: Audrey Benyamine, Pauline Belenotti, Brigitte Granel, Nicolas Macagno, Nadine Girard, Laurent Daniel, Bertrand Dussol, Clémence Delteil, Pierre-Jean Weiller, Vascular research center of Marseille (VRCM), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre recherche en CardioVasculaire et Nutrition (C2VN), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Service de Médecine Interne (MARSEILLE - Med Int), Assistance Publique - Hôpitaux de Marseille (APHM), Chirurgie urologique et transplantation rénale [Hôpital de la Conception - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), Service de Médecine Interne, Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Nord [CHU - APHM], Laboratoire de génie électrique de Paris (LGEP), Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-SUPELEC-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), and Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Ecole Supérieure d'Electricité - SUPELEC (FRANCE)-Centre National de la Recherche Scientifique (CNRS)
Subjects: medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], MEDLINE, General Medicine, medicine.disease, Dermatology, Pathology and Forensic Medicine, Hemangioma, 03 medical and health sciences, 0302 clinical medicine, Neurology, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, POEMS syndrome
Abstract: International audience
Published: 2018

18. Pretherapeutic Functional Neuroimaging Predicts Tremor Arrest after Thalamotomy

Author: Nadine Girard, Mohamed Faouzi, D. Van De Ville, Marc Levivier, Tatiana Witjas, M. Bach Cuadra, Constantin Tuleasca, Jean-Philippe Thiran, J. Régis, Jerome Champoudry, Elena Najdenovska, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Male, medicine.medical_specialty, Deep brain stimulation, medicine.medical_treatment, stereotactic radiosurgery, Radiosurgery, ddc:616.0757, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Thalamus, Neuroimaging, Image Interpretation, Computer-Assisted, medicine, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, snc, Stereotactic radiosurgery, essential tremor, Resting state, Aged, Aged, 80 and over, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Resting state fMRI, Essential tremor, Thalamotomy, business.industry, Functional Neuroimaging, [SCCO.NEUR]Cognitive science/Neuroscience, fMRI, General Medicine, Middle Aged, thalamotomy, medicine.disease, Magnetic Resonance Imaging, Treatment Outcome, Neurology, Female, Neurology (clinical), Radiology, Nerve Net, Primary motor cortex, business, 030217 neurology & neurosurgery, Brodmann area
Abstract: Objective Essential tremor (ET) represents the most common movement disorder. Drug-resistant ET can benefit from standard stereotactic procedures (deep brain stimulation or radiofrequency thalamotomy) or alternatively minimally invasive high-focused ultrasound or radiosurgery. All aim at same target, thalamic ventro-intermediate nucleus (Vim). Methods The study included a cohort of 17 consecutive patients, with ET, treated only with left unilateral stereotactic radiosurgical thalamotomy (SRS-T) between September 2014 and August 2015. The mean time to tremor improvement was 3.32 months (SD 2.7, 0.5-10). Neuroimaging data were collected at baseline (n = 17). Standard tremor scores, including activities of daily living (ADL) and tremor score on treated hand (TSTH), were completed pretherapeutically and 1 year later. We further correlate these scores with baseline inter-connectivity in twenty major large-scale brain networks. Results We report as predictive three networks, with the interconnected statistically significant clusters: primary motor cortex interconnected with inferior olivary nucleus, bilateral thalamus interconnected with motor cerebellum lobule V2 (ADL), and anterior default-mode network interconnected with Brodmann area 103 (TSTH). For all, more positive pretherapeutic interconnectivity correlated with higher drop in points on the respective scores. Age, disease duration, or time-to-response after SRS-T were not statistically correlated with pretherapeutic brain connectivity measures (P > .05). The same applied to pretherapeutic tremor scores, after using the same methodology described above. Conclusions Our findings have clinical implications for predicting clinical response after SRS-T. Here, using pretherapeutic magnetic resonance imaging and data processing without prior hypothesis, we show that pretherapeutic network(s) interconnectivity strength predicts tremor arrest in drug-na\"ive ET, following stereotactic radiosurgical thalamotomy.
Published: 2018

19. Assessing the clinical outcome of Vim radiosurgery with voxel-based morphometry: visual areas are linked with tremor arrest!

Author: Antoine Verger, Eric Guedj, Jean-Philippe Thiran, Nadine Girard, Elena Najdenovska, Constantin Tuleasca, Meritxell Bach Cuadra, Dimitri Van De Ville, Tatiana Witjas, Jean Régis, Marc Levivier, Jerome Champoudry, Service de Médecine Nucléaire [Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Signal Processing Laboratory [Lausanne] (LTS5), Ecole Polytechnique Fédérale de Lausanne (EPFL), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Laboratoire de Traitement du signal [EPFL] / Signal Processing Laboratories (SP Lab), Biomedical Imaging Group [Lausanne], Service Central de Biophysique et de Médecine Nucléaire, Service de neurologie et de neuropsychologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), and Service de Médecine Nucléaire [CHRU Nancy]
Subjects: Male, 0301 basic medicine, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, medicine.medical_treatment, CIBM-SPC, computer.software_genre, 0302 clinical medicine, Voxel, Tremor, Gray Matter, Aged, 80 and over, medicine.diagnostic_test, Essential tremor, Middle Aged, Magnetic Resonance Imaging, Temporal Lobe, Brodmann area 19, Thalamotomy, Treatment Outcome, Gamma Knife surgery, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Occipital Lobe, Essential Tremor, [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine, Radiosurgery, ddc:616.0757, 03 medical and health sciences, Neuroimaging, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, snc, Aged, Ventral Thalamic Nuclei, business.industry, Ventro-intermediate nucleus, Magnetic resonance imaging, Voxel-based morphometry, Hand, medicine.disease, 030104 developmental biology, Surgery, Neurology (clinical), Nuclear medicine, business, computer, 030217 neurology & neurosurgery
Abstract: International audience; INTRODUCTION: Radiosurgery (RS) is an alternative to open standard stereotactic procedures (deep-brain stimulation or radiofrequency thalamotomy) for drug-resistant essential tremor (ET), aiming at the same target (ventro-intermediate nucleus, Vim). We investigated the Vim RS outcome using voxel-based morphometry by evaluating the interaction between clinical response and time. METHODS: Thirty-eight patients with right-sided ET benefited from left unilateral Vim RS. Targeting was performed using 130 Gy and a single 4-mm collimator. Neurological and neuroimaging assessment was completed at baseline and 1 year. Clinical responders were considered those with at least 50% improvement in tremor score on the treated hand (TSTH). RESULTS: Interaction between clinical response and time showed the left temporal pole and occipital cortex (Brodmann area 19, including V4, V5 and the parahippocampal place area) as statistically significant. A decrease in gray matter density (GMD) 1 year after Vim RS correlated with higher TSTH improvement (Spearman = 0.01) for both anatomical areas. Higher baseline GMD within the left temporal pole correlated with better TSTH improvement (Spearman = 0.004). CONCLUSIONS: Statistically significant structural changes in the relationship to clinical response after Vim RS are present in remote areas, advocating a distant neurobiological effect. The former regions are mainly involved in locomotor monitoring toward the local and distant environment, suggesting the recruiting requirement in targeting of the specific visuomotor networks.
Published: 2017

20. Spontaneous seizure remission following status epilepticus in drug-resistant epilepsy due to focal cortical dysplasia

Author: Fabrice Bartolomei, Aileen McGonigal, Eric Guedj, Nadine Girard, Patrick Chauvel, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service Central de Biophysique et de Médecine Nucléaire, Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Neurophysiologie et Neuropsychologie, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epilepsies, Lesions Cerebrales et Systemes Neuraux de la Cognition, and Guedj, Eric
Subjects: Adult, 0301 basic medicine, Drug Resistant Epilepsy, Pathology, medicine.medical_specialty, Remission, Spontaneous, Context (language use), Status epilepticus, Focal cortical dysplasia, White matter, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuroimaging, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], FDG-PET, status epilepticus, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Cortical dysplasia, medicine.disease, diffusion tensor imaging, White Matter, Malformations of Cortical Development, 030104 developmental biology, medicine.anatomical_structure, Neurology, Chronic Disease, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; We describe a patient with chronic pharmacoresistant epilepsy related to right parietal focal cortical dysplasia (FCD), who became seizure-free following an episode of convulsive status epilepticus (SE). Magnetic resonance imaging (MRI) and fludeoxyglucose positron emission tomography (FDG-PET) were performed before and after SE. Longitudinal MRI scans showed a stable appearance of the FCD with no new signal change. However, diffusion tensor imaging showed altered white matter fiber tract orientation in posterior cortices, especially in proximity to the lesion, at 3 years post-SE. FDG-PET showed more widespread hypometabolism 3 years after SE. The unusual occurrence of spontaneous seizure remission following SE in the context of FCD-related epilepsy, in association with neuroimaging evolution, suggests possible cerebral reorganization triggered by SE as a mechanism in this case.
Published: 2017

21. Cockayne Syndrome: A Diffusion Tensor Imaging and Volumetric Study

Author: Mériam Koob, Jean-Louis Dietemann, Nadine Girard, Vincent Laugel, Nicolas Meyer, François Rousseau, Jean-Paul Armspach, Service de radiologie [Strasbourg], CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département Image et Traitement Information (ITI), Université européenne de Bretagne - European University of Brittany (UEB)-Télécom Bretagne-Institut Mines-Télécom [Paris] (IMT), Laboratoire de Traitement de l'Information Medicale (LaTIM), Université européenne de Bretagne - European University of Brittany (UEB)-Télécom Bretagne-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Mines-Télécom [Paris] (IMT), Hôpital de Hautepierre [Strasbourg], Laboratoire de biostatistique, CHU Strasbourg, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Université européenne de Bretagne - European University of Brittany (UEB)-Université de Brest (UBO)-Télécom Bretagne-Institut Mines-Télécom [Paris] (IMT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, Adult, Male, Adolescent, Cockayne syndrome, White matter, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Imaging, Three-Dimensional, Basal ganglia, Fractional anisotropy, Centrum semiovale, Image Interpretation, Computer-Assisted, medicine, Effective diffusion coefficient, Humans, Radiology, Nuclear Medicine and imaging, Child, Cockayne Syndrome, Full Paper, business.industry, Infant, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Diffusion Tensor Imaging, nervous system, Case-Control Studies, Child, Preschool, Anisotropy, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, business, Nuclear medicine, 030217 neurology & neurosurgery, Diffusion MRI
Abstract: International audience; OBJECTIVES: Cockayne syndrome (CS) is a rare disorder characterized by severe brain atrophy, white matter hypomyelination, and basal ganglia calcifications. This study aimed to quantify atrophy and white matter abnormalities using diffusion tensor imaging (DTI) and volumetric analysis, to evaluate possible differences between CS subtypes, and to determine if DTI findings may correspond to a hypomyelinating disorder. METHODS: Fourteen CS patients and 14 controls underwent brain MRI including DTI and a volumetric 3D T1-weighted sequence. DTI analysis was made through ROIs within the whole brain to obtain fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values, and in the left centrum semiovale to obtain DTI eigenvalues. A Student's t-test was used to compare patients and controls, and CS subtypes. Given the small number of CS patients, they were pooled in two groups: moderate (CS1/CS3) and severe (CS2/COFS (cerebro-oculo-facio-skeletal syndrome)). RESULTS: Total brain volume in CS was reduced by 57%, predominantly in the infratentorial area (68%) (p \textless0.001). Total brain volume reduction was greater in the severe group, but there was no difference in the degree of infratentorial atrophy in the two groups (p = 0.7). Mean FA values were lower, whereas ADC was higher in most of the white matter in CS patients (p \textless0.05). ADC in the splenium of the corpus callosum and the posterior limb of the internal capsule, and FA in the cerebral peduncles were significantly different between the two groups (p \textless0.05). Mean ADC values corresponded to a hypomyelinating disorder. All DTI eigenvalues were higher in CS patients, mainly for transverse diffusivity (+51%) (p \textless0.001). CONCLUSIONS: DTI and volumetric analysis provide quantitative information for the characterization of CS, and may be particularly useful for evaluating therapeutic intervention. ADVANCES IN KNOWLEDGE: DTI combined with volumetric analysis provides additional informations useful not only for characterization of Cockayne syndrome and distinction of clinical subtypes but also to monitor therapeutic interventions.
Published: 2016

22. The diagnostic accuracy of multiparametric MRI to determine pediatric brain tumor grades and types

Author: Slim Fellah, Sylviane Confort-Gouny, Didier Scavarda, Mériam Koob, Nadine Girard, Badih Ghattas, Dominique Figarella-Branger, Service de radiologie [Strasbourg], CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Informatique Fondamentale et Appliquée de Tours (LIFAT), Université de Tours (UT)-Institut National des Sciences Appliquées - Centre Val de Loire (INSA CVL), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS), Institut de Mathématiques de Marseille (I2M), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de physique de la matière condensée (LPMC), École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Neurochirurgie pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-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 de Tours-Institut National des Sciences Appliquées - Centre Val de Loire (INSA CVL), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU), and Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, In vivo magnetic resonance spectroscopy, Cancer Research, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Neurology, Adolescent, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.CAN]Life Sciences [q-bio]/Cancer, Astrocytoma, Magnetic resonance angiography, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Typing, Child, Grading (tumors), ComputingMilieux_MISCELLANEOUS, Neoplasm Staging, Retrospective Studies, medicine.diagnostic_test, Pilocytic astrocytoma, Brain Neoplasms, business.industry, Infant, Retrospective cohort study, Glioma, Prognosis, medicine.disease, 3. Good health, Survival Rate, Diffusion Magnetic Resonance Imaging, Oncology, Child, Preschool, Pediatric Brain Tumor, Female, Neurology (clinical), Radiology, Neoplasm Grading, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: Childhood brain tumors show great histological variability. The goal of this retrospective study was to assess the diagnostic accuracy of multimodal MR imaging (diffusion, perfusion, MR spectroscopy) in the distinction of pediatric brain tumor grades and types. Seventy-six patients (range 1 month to 18 years) with brain tumors underwent multimodal MR imaging. Tumors were categorized by grade (I-IV) and by histological type (A-H). Multivariate statistical analysis was performed to evaluate the diagnostic accuracy of single and combined MR modalities, and of single imaging parameters to distinguish the different groups. The highest diagnostic accuracy for tumor grading was obtained with diffusion-perfusion (73.24%) and for tumor typing with diffusion-perfusion-MR spectroscopy (55.76%). The best diagnostic accuracy was obtained for tumor grading in I and IV and for tumor typing in embryonal tumor and pilocytic astrocytoma. Poor accuracy was seen in other grades and types. ADC and rADC were the best parameters for tumor grading and typing followed by choline level with an intermediate echo time, CBV for grading and Tmax for typing. Multiparametric MR imaging can be accurate in determining tumor grades (primarily grades I and IV) and types (mainly pilocytic astrocytomas and embryonal tumors) in children.
Published: 2016

23. On the growth and form of cortical convolutions

Author: Lakshminarayanan Mahadevan, Nadine Girard, Jun Young Chung, Tuomas Tallinen, Julien Lefèvre, François Rousseau, Nanoscience Center [Jyväskylä Univ] (NSC@JYU), University of Jyväskylä (JYU), Harvard John A. Paulson School of Engineering and Applied Sciences (SEAS), Harvard University, Wyss Institute for Biologically Inspired Engineering [Harvard University], Département Image et Traitement Information (ITI), Université européenne de Bretagne - European University of Brittany (UEB)-Télécom Bretagne-Institut Mines-Télécom [Paris] (IMT), Laboratoire de Traitement de l'Information Medicale (LaTIM), Université européenne de Bretagne - European University of Brittany (UEB)-Université de Brest (UBO)-Télécom Bretagne-Institut Mines-Télécom [Paris] (IMT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Service de neuroradiologie diagnostique et interventionnelle, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire des Sciences de l'Information et des Systèmes (LSIS), Aix Marseille Université (AMU)-Université de Toulon (UTLN)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Centre National de la Recherche Scientifique (CNRS), Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Departments of Organismic and Evolutionary Biology, and Physics (Harvard University), Kavli Institute for Bionano Science & Technology [Harvard University] (KIBST), Harvard University [Cambridge], and Centre National de la Recherche Scientifique (CNRS)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Université de Toulon (UTLN)-Aix Marseille Université (AMU)
Subjects: 0301 basic medicine, Physics, Nonlinear phenomena, ta114, growth, General Physics and Astronomy, gyrification, ta3112, Swell, Fetal brain, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Cerebral cortex, brain geometry, medicine, Biophysics, cerebral cortex, Computational biophysics, [PHYS.MECA.BIOM]Physics [physics]/Mechanics [physics]/Biomechanics [physics.med-ph], [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, 030217 neurology & neurosurgery
Abstract: International audience; The rapid growth of the human cortex during development is accompanied by the folding of the brain into a highly convoluted structure1-3. Recent studies have focused on the genetic and cellular regulation of cortical growth4-8, but understanding the formation of the gyral and sulcal convolutions also requires consideration of the geometry and physical shaping of the growing brain9-15. To study this, we use magnetic resonance images to build a 3D-printed layered gel mimic of the developing smooth fetal brain; when immersed in a solvent, the outer layer swells relative to the core, mimicking cortical growth. This relative growth puts the outer layer into mechanical compression and leads to sulci and gyri similar to those in fetal brains. Starting with the same initial geometry, we also build numerical simulations of the brain modelled as a soft tissue with a growing cortex, and show that this also produces the characteristic patterns of convolutions over a realistic developmental course. All together, our results show that although many molecular determinants control the tangential expansion of the cortex, the size, shape, placement and orientation of the folds arise through iterations and variations of an elementary mechanical instability modulated by early fetal brain geometry.
Published: 2016

24. Neuroimaging Differential Diagnoses to Abusive Head Trauma

Author: Hervé Brunel, Brigitte Chabrol, Philippe Dory-Lautrec, Nadine Girard, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Radiologie pédiatrique et prénatale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Male, Pediatrics, medicine.medical_specialty, Traumatic brain injury, Neuroimaging, Head trauma, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, clin, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Craniocerebral Trauma, Humans, Radiology, Nuclear Medicine and imaging, Child Abuse, snc, Child, Neuroradiology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Head injury, Infant, Newborn, Infant, medicine.disease, Surgery, Traumatic injury, Accidental, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Differential diagnosis, business, 030217 neurology & neurosurgery
Abstract: Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury.
Published: 2016

25. Donepezil decreases annual rate of hippocampal atrophy in suspected prodromal Alzheimer's disease

Author: Amir Ait Ameur, Enrica Cavedo, Simone Lista, Olivier Rouaud, Florence Pasquier, Jacques Touchon, Pierre Jean Ousset, Isabelle Tonelli, Mathieu Ceccaldi, Marie Sarazin, Alain Vighetto, Marie Chupin, Nadine Girard, Françoise Duveau, Didier Dormont, Guy Louis Tisserand, Frédéric Ricolfi, Christine Delmaire, Alain Bonafe, Line Garnero, Bernard Croisile, Bruno Dubois, Olivier Colliot, Carole Dufouil, Stéphane Lehéricy, Harald Hampel, Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A), Université Pierre et Marie Curie - Paris 6 (UPMC)-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), 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), 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), 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], Department of Psychiatry, Psychosomatic Medicine and Psychotherapy [Goethe Universität], Goethe-Universität Frankfurt am Main, Université Pierre et Marie Curie - Paris 6 (UPMC), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Casselardit - Junod, Clinique Pasteur, Clinique Pasteur [Toulouse], Centre Mémoire Ressources et Recherche [Dijon] (CMRR Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Roger Salengro [Lille], Hôpital de la Timone [CHU - APHM] (TIMONE), INSERM U897, University of Bordeaux, France, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Eisai, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), CHU Amiens-Picardie, Hippocampus Study Group, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-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], Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Neuroradiologie [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), 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)-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]
Subjects: Male, Epidemiology, Disease, Gastroenterology, Hippocampus, law.invention, 0302 clinical medicine, Randomized controlled trial, Piperidines, law, Hippocampus (mythology), Donepezil, 0303 health sciences, education.field_of_study, Health Policy, Organ Size, Magnetic Resonance Imaging, Hippocampal atrophy, 3. Good health, Psychiatry and Mental health, Neuroprotective Agents, Treatment Outcome, Indans, Disease Progression, Biomarker (medicine), Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, Psychology, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, medicine.drug, medicine.medical_specialty, Population, Prodromal Symptoms, Placebo, 03 medical and health sciences, Cellular and Molecular Neuroscience, Developmental Neuroscience, Double-Blind Method, Alzheimer Disease, Internal medicine, mental disorders, medicine, Humans, Psychiatry, education, 030304 developmental biology, Aged, Neurology (clinical), Geriatrics and Gerontology, Atrophy, 030217 neurology & neurosurgery
Abstract: International audience; INTRODUCTION:The purpose of this study was to study the effect of donepezil on the rate of hippocampal atrophy in prodromal Alzheimer's disease (AD).METHODS:A double-blind, randomized, placebo-controlled parallel group design using donepezil (10 mg/day) in subjects with suspected prodromal AD. Subjects underwent two brain magnetic resonance imaging scans (baseline and final visit). The primary efficacy outcome was the annualized percentage change (APC) of total hippocampal volume (left + right) measured by an automated segmentation method.RESULTS:Two-hundred and sixteen only subjects were randomized across 28 French expert clinical sites. In the per protocol population (placebo = 92 and donepezil = 82), the donepezil group exhibited a significant reduced rate of hippocampal atrophy (APC = -1.89%) compared with the placebo group (APC = -3.47%), P < .001. There was no significant difference in neuropsychological performance between treatment groups.DISCUSSION:A 45% reduction of rate of hippocampal atrophy was observed in prodromal AD following 1 year of treatment with donepezil compared with placebo.
Published: 2015

26. Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

Author: André Mégarbané, Nancy Choucair, Cécile Mignon-Ravix, Laurent Villard, Sophie Julia, Sabine Sigaudy, Chantal Missirian, Tiffany Busa, Nadine Girard, Catherine Badens, Mathieu Milh, Pierre Cacciagli, Cornel Popovici, Nicole Philip, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cancérologie expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epilepsie et ischémie cérébrale, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de référence maladie rare Thalassémie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Génétique, and Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, DNA Copy Number Variations, X-linked intellectual disability, [SDV]Life Sciences [q-bio], Genome-wide association study, Biology, X-inactivation, Translocation, Genetic, MECP2, 03 medical and health sciences, Exon, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, TRPC Cation Channels, 0303 health sciences, Chromosomes, Human, X, Comparative Genomic Hybridization, [SDV.GEN]Life Sciences [q-bio]/Genetics, Microfilament Proteins, Chromosome Mapping, medicine.disease, FMR1, Genetic Loci, Child, Preschool, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030217 neurology & neurosurgery, Gene Deletion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Comparative genomic hybridization, Genome-Wide Association Study
Abstract: High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inheritance or maternal skewed X-chromosome inactivation (XCI), using a home-made X-chromosome-specific microarray covering the whole human X-chromosome at high resolution. The majority of patients had whole genome array-CGH prior to the selection and we did not include large rearrangements such as MECP2 and FMR1 duplications. We identified four rearrangements considered as causative or potentially pathogenic, corresponding to a detection rate of 8%. Two CNVs affected known XLID genes and were therefore considered as causative (IL1RAPL1 and OPHN1 intragenic deletions). Two new CNVs were considered as potentially pathogenic as they affected interesting candidates for ID. The first CNV is a deletion of the first exon of the TRPC5 gene, encoding a cation channel implicated in dendrite growth and patterning, in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, in a patient with severe ID, epilepsy, and anomalies of cortical development. In both cases, in spite of strong arguments for clinical relevance, we were not able at this stage to confirm pathogenicity of the mutations, and the causality of the variants identified in XLID remains to be confirmed.
Published: 2014

27. AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Author: Diana Zelenika, Nadine Girard, David H. Ledbetter, Pierre Cacciagli, Laurent Villard, William B. Dobyns, Nicolas Lévy, Mark Lathrop, Jean-Pierre Desvignes, Marc Delepine, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Developmental Brain and Behaviour Unit, University of Southampton, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, Male, Adaptor Protein Complex sigma Subunits, Adolescent, Pettigrew Syndrome, Clathrin adaptor complex, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Article, Basal Ganglia Diseases, Dandy–Walker syndrome, Seizures, Intellectual disability, Genetics, medicine, Humans, Exome, Amino Acid Sequence, Child, Basal ganglia disease, Genetics (clinical), AP1S2, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Chromosomes, Human, X, [SDV.GEN]Life Sciences [q-bio]/Genetics, medicine.disease, Pedigree, Mutation, Mutation (genetic algorithm), Mental Retardation, X-Linked, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Dandy-Walker Syndrome, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy–Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity.
Published: 2013

28. Assessment of white matter injury and outcome in severe brain trauma: a prospective multicenter cohort

Author: Damien, Galanaud, Vincent, Perlbarg, Rajiv, Gupta, Robert D, Stevens, Paola, Sanchez, Eléonore, Tollard, Nicolas Menjot, de Champfleur, Julien, Dinkel, Sébastien, Faivre, Gustavo, Soto-Ares, Benoit, Veber, Vincent, Cottenceau, Françoise, Masson, Thomas, Tourdias, Edith, André, Gérard, Audibert, Emmanuelle, Schmitt, Danielle, Ibarrola, Frédéric, Dailler, Audrey, Vanhaudenhuyse, Luaba, Tshibanda, Jean-François, Payen, Jean-François, Le Bas, Alexandre, Krainik, Nicolas, Bruder, Nadine, Girard, Steven, Laureys, Habib, Benali, Louis, Puybasset, Dominique, Sappey-Marinier, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Laboratoire d'Imagerie Fonctionnelle (LIF), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-IFR49-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'imagerie médicale [CHU Rouen], Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Urgence et post-urgence psychiatrique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de réanimation médicale [CHU Rouen], Neuroinflammation: imagerie et thérapie de la sclérose en plaques, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Risque cardiovasculaire, rigidité-fibrose et hypercoagulabilité (RCV), Université Henri Poincaré - Nancy 1 (UHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC - Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Grenoble Institut des Neurosciences (GIN), IRMaGe (IRMaGe), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Anesthesiology and Intensive Care, Hôpital de la Timone [CHU - APHM] (TIMONE), Coma Science Group [Liege], Université de Liège, Centre de Recherches du Cyclotron [Liège] (CRC), Service de Neuroradiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Charles Nicolle [Rouen]-CHU Rouen, RMN biomédicale : de la cellule à l'homme (RBCH), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-DIR CENTRALE DU SSA-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'anesthésie-réanimation [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: Adult, Male, Adolescent, Middle Aged, Magnetic Resonance Imaging, Nerve Fibers, Myelinated, Severity of Illness Index, Cohort Studies, Young Adult, Treatment Outcome, Brain Injuries, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Female, Prospective Studies, Aged, Follow-Up Studies
Abstract: International audience; BACKGROUND: Existing methods to predict recovery after severe traumatic brain injury lack accuracy. The aim of this study is to determine the prognostic value of quantitative diffusion tensor imaging (DTI). METHODS: In a multicenter study, the authors prospectively enrolled 105 patients who remained comatose at least 7 days after traumatic brain injury. Patients underwent brain magnetic resonance imaging, including DTI in 20 preselected white matter tracts. Patients were evaluated at 1 yr with a modified Glasgow Outcome Scale. A composite DTI score was constructed for outcome prognostication on this training database and then validated on an independent database (n=38). DTI score was compared with the International Mission for Prognosis and Analysis of Clinical Trials Score. RESULTS: Using the DTI score for prediction of unfavorable outcome on the training database, the area under the receiver operating characteristic curve was 0.84 (95% CI: 0.75-0.91). The DTI score had a sensitivity of 64% and a specificity of 95% for the prediction of unfavorable outcome. On the validation-independent database, the area under the receiver operating characteristic curve was 0.80 (95% CI: 0.54-0.94). On the training database, reclassification methods showed significant improvement of classification accuracy (P < 0.05) compared with the International Mission for Prognosis and Analysis of Clinical Trials score. Similar results were observed on the validation database. CONCLUSIONS: White matter assessment with quantitative DTI increases the accuracy of long-term outcome prediction compared with the available clinical/radiographic prognostic score.
Published: 2012

29. The Brain in the Belly: What and How of Fetal Neuroimaging?

Author: Nadine Girard, Kathia Chaumoitre, Neurobiologie et Développement (N&eD), Centre National de la Recherche Scientifique (CNRS), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Service d'imagerie médicale, and CHU Marseille
Subjects: Pathology, medicine.medical_specialty, fetal development, fetal dis- eases, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Prenatal Diagnosis, medicine, Humans, magnetic resonance imaging, Radiology, Nuclear Medicine and imaging, human brain, diffusion magnetic resonance imaging, Fetus, Brain Diseases, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Human brain, Proton magnetic resonance, Diffusion imaging, Fetal Diseases, medicine.anatomical_structure, In utero, business, 030217 neurology & neurosurgery, magnetic resonance spectroscop, Diffusion MRI
Abstract: This work reviews magnetic resonance imaging in the developing human brain. It focuses on fetal brain imaged in vivo and in utero with complementary sections on abnormalities seen in clinical settings, and on potential of diffusion tensor imaging and of proton magnetic resonance spectroscopy. The main purposes are to illustrate the normal fetal developing brain and its abnormalities commonly encountered in utero, and to emphasize the potential role of adjunct techniques such as diffusion imaging and spectroscopy that may help elucidate fetal brain maturation and its abnormalities.
Published: 2012

30. Spectroscopie de la maturation cérébrale et de ses anomalies

Author: M Anca Dediu, Sylviane Confort-Gouny, Kathia Chaumoitre, Angèle Viola, Philippe Dory-Lautrec, Nadine Girard, Y Le Fur, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), and Ben Dahan, David
Subjects: 03 medical and health sciences, 0302 clinical medicine, 030217 neurology & neurosurgery, 030218 nuclear medicine & medical imaging, 3. Good health
Abstract: RADIOLOGIE ET IMAGERIE MEDICALE : Musculosquelettique - Neurologique - Maxillofaciale - 31-620-A-10
Published: 2012

31. Early Evaluation of Tumoral Response to Antiangiogenic Therapy by Arterial Spin Labeling Perfusion Magnetic Resonance Imaging and Susceptibility Weighted Imaging in a Patient With Recurrent Glioblastoma Receiving Bevacizumab

Author: Nadine Girard, Slim Fellah, Olivier Chinot, Patrick J. Cozzone, Virginie Callot, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE)
Subjects: Male, Cancer Research, medicine.medical_specialty, Bevacizumab, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Antibodies, Monoclonal, Humanized, Irinotecan, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Text mining, Fatal Outcome, Antineoplastic Combined Chemotherapy Protocols, Medicine, Humans, ComputingMilieux_MISCELLANEOUS, Aged, business.industry, Brain Neoplasms, Recurrent glioblastoma, Antiangiogenic therapy, Antibodies, Monoclonal, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Arterial spin labeling, Susceptibility weighted imaging, Camptothecin, Spin Labels, Radiology, Neoplasm Recurrence, Local, business, Nuclear medicine, Perfusion magnetic resonance imaging, Glioblastoma, Magnetic Resonance Angiography, medicine.drug
Abstract: International audience
Published: 2011

32. Prenatal Diagnosis by Fetal Magnetic Resonance Imaging

Author: Kathia Chaumoitre, Nadine Girard, Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), and Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS)
Subjects: Fetal magnetic resonance imaging, medicine.medical_specialty, business.industry, Ultrasound, Congenital diaphragmatic hernia, Prenatal diagnosis, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, medicine.disease, Chest masses, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Radiology, business, ComputingMilieux_MISCELLANEOUS, Ventriculomegaly
Abstract: International audience
Published: 2010

33. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

Author: Nadine Girard, Nicole Philip, Cécile Mignon-Ravix, Bilal El-Waly, Anne Moncla, Brigitte Chabrol, Mathieu Milh, Pierre Cacciagli, Laurent Villard, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), and Ben Dahan, David
Subjects: Adult, Male, Gene Expression, Biology, Corpus callosum, Corpus Callosum, Cohort Studies, 03 medical and health sciences, Mice, 0302 clinical medicine, Periventricular Nodular Heterotopia, Genetics, medicine, Animals, Humans, YWHAE, Gene, Genetics (clinical), 030304 developmental biology, Mice, Knockout, 0303 health sciences, Comparative Genomic Hybridization, Tumor Suppressor Proteins, Brain, Membrane Proteins, medicine.disease, Phenotype, Magnetic Resonance Imaging, Hypoplasia, Radiography, medicine.anatomical_structure, 14-3-3 Proteins, Cerebral cortex, Organ Specificity, Child, Preschool, Knockout mouse, Female, Haploinsufficiency, 030217 neurology & neurosurgery, Gene Deletion, Chromosomes, Human, Pair 17
Abstract: 1468-6244 (Electronic) 0022-2593 (Linking) Journal Article Research Support, Non-U.S. Gov't; BACKGROUND: Malformations of cortical development are not rare and cause a wide spectrum of neurological diseases based on the affected region in the cerebral cortex. A significant proportion of these malformations could have a genetic basis. However, genetic studies are limited because most cases are sporadic and mendelian forms are rare. METHODS: In order to identify new genetic causes in patients presenting defects of cortical organisation, array based comparative genomic hybridisation was performed in a cohort of 100 sporadic cases with various types of cortical malformations in search for inframicroscopic chromosomal rearrangements. RESULTS: In one patient presenting with periventricular nodular heterotopias and pronounced corpus callosum hypoplasia, a small (400 kb) 17p13.3 deletion involving the YWHAE gene was identified. It is shown that YWHAE is the only brain expressed gene in the deleted region and that the other genes in the interval are unlikely to contribute to the brain malformation phenotype of this patient. CONCLUSION: Most 17p13.3 deletions reported to date are large, such as the deletions causing Miller-Dieker syndrome, and involve several genes implicated in various steps of brain development. Haploinsufficiency of the mouse orthologue of YWHAE causes a defect of neuronal migration. However, the human counterpart of this phenotype was not known. The case described here represents the smallest reported deletion involving the YWHAE gene and could represent the human counterpart of the abnormal cortical organisation phenotype presented by the Ywhae heterozygous knockout mouse.
Published: 2010

34. Diffusion-weighted imaging in normal fetal brain maturation

Author: Nadine Girard, F. Chapon, M. Bennathan, P.J. Cozzone, Y. Le Fur, Patrick Viout, Sylviane Confort-Gouny, C. Fogliarini, Jacques Schneider, Ben Dahan, David, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SPI.OTHER]Engineering Sciences [physics]/Other, Gestational Age, 030218 nuclear medicine & medical imaging, Temporal lobe, White matter, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Cerebellar hemisphere, Centrum semiovale, medicine, Effective diffusion coefficient, Humans, Radiology, Nuclear Medicine and imaging, Retrospective Studies, Analysis of Variance, Brain Mapping, medicine.diagnostic_test, business.industry, [SPI.OTHER] Engineering Sciences [physics]/Other, Brain, Magnetic resonance imaging, General Medicine, Anatomy, Pons, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, Female, business, 030217 neurology & neurosurgery, Diffusion MRI
Abstract: Diffusion-weighted imaging (DWI) provides information about tissue maturation not seen on conventional magnetic resonance imaging. The aim of this study is to analyze the evolution over time of the apparent diffusion coefficient (ADC) of normal fetal brain in utero. DWI was performed on 78 fetuses, ranging from 23 to 37 gestational weeks (GW). All children showed at follow-up a normal neurological evaluation. ADC values were obtained in the deep white matter (DWM) of the centrum semiovale, the frontal, parietal, occipital and temporal lobe, in the cerebellar hemisphere, the brainstem, the basal ganglia (BG) and the thalamus. Mean ADC values in supratentorial DWM areas (1.68 +/- 0.05 mm(2)/s) were higher compared with the cerebellar hemisphere (1.25 +/- 0.06 mm(2)/s) and lowest in the pons (1.11 +/- 0.05 mm(2)/s). Thalamus and BG showed intermediate values (1.25 +/- 0.04 mm(2)/s). Brainstem, cerebellar hemisphere and thalamus showed a linear negative correlation with gestational age. Supratentorial areas revealed an increase in ADC values, followed by a decrease after the 30th GW. This study provides a normative data set that allows insights in the normal fetal brain maturation in utero, which has not yet been observed in previous studies on premature babies.
Published: 2007

35. Multiparametric differentiation of posterior fossa tumors in children using diffusion-weighted imaging and short echo-time (1)H-MR spectroscopy

Author: Angèle Viola, Y. Le Fur, Patrick Viout, Jacques Schneider, Sylviane Confort-Gouny, M. Bennathan, Nadine Girard, P.J. Cozzone, F. Chapon, Dominique Figarella-Branger, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), and Ben Dahan, David
Subjects: Male, Ependymoma, [SPI.OTHER]Engineering Sciences [physics]/Other, Magnetic Resonance Spectroscopy, Adolescent, Astrocytoma, Statistics, Nonparametric, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Region of interest, Glioma, medicine, Humans, Effective diffusion coefficient, Radiology, Nuclear Medicine and imaging, Child, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Medulloblastoma, Pilocytic astrocytoma, [SPI.OTHER] Engineering Sciences [physics]/Other, Brain Neoplasms, business.industry, Discriminant Analysis, Infant, medicine.disease, Linear discriminant analysis, 3. Good health, Diffusion Magnetic Resonance Imaging, Cranial Fossa, Posterior, Child, Preschool, Female, Nuclear medicine, business, 030217 neurology & neurosurgery, Diffusion MRI
Abstract: Purpose To assess the combined value of diffusion-weighted imaging (DWI) and proton magnetic resonance spectroscopy (1H-MRS) in differentiating medulloblastoma, ependymoma, pilocytic astrocytoma, and infiltrating glioma in a pediatric population. Materials and Methods A total of 17 children with untreated posterior fossa tumors (seven medulloblastoma, four infiltrating glioma, two ependymoma, and four pilocytic astrocytoma), were investigated with conventional MRI, DWI, and MRS using a single-voxel technique. Within the nonnecrotic tumor core, apparent diffusion coefficient (ADC) values using a standardized region of interest (ROI) were retrieved. Quantification of water signal and analysis of metabolite signals from MRS measurements in the same tumorous area were reviewed using multivariant linear discriminant analysis. Results Combination of ADC values and metabolites, which were normalized using water as an internal standard, allowed discrimination between the four tumor groups with a likelihood below 1 × 10–9. Positive predictive value was 1 in all cases. Tumors could not be discriminated when using metabolite ratios or ADC values alone, nor could they be differentiated using creatine (Cr) as an internal reference even in combination with ADC values. Conclusion Linear discriminant analysis using DWI and MRS using water as internal reference, fully discriminates the four most frequent posterior fossa tumors in children. J. Magn. Reson. Imaging. © 2007 Wiley-Liss, Inc.
Published: 2007

36. Assessment of normal fetal brain maturation in utero by proton magnetic resonance spectroscopy

Author: Patrick J. Cozzone, Patrick Viout, Angèle Viola, Catherine Gire, Sylviane Confort Gouny, C d'Ercole, Yann Le Fur, Nadine Girard, Dominique Figarella-Branger, Kathia Chaumoitre, Ben Dahan, David, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), and Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: In vivo magnetic resonance spectroscopy, [SPI.OTHER]Engineering Sciences [physics]/Other, Aging, Magnetic Resonance Spectroscopy, Gestational Age, Creatine, 030218 nuclear medicine & medical imaging, Fetal Development, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Nuclear magnetic resonance, Pregnancy, Choline, Humans, Radiology, Nuclear Medicine and imaging, Brain Chemistry, Aspartic Acid, [SPI.OTHER] Engineering Sciences [physics]/Other, Gestational age, Brain, Prenatal development, In vitro, chemistry, In utero, Linear Models, Gestation, Female, 030217 neurology & neurosurgery, Algorithms
Abstract: Cerebral maturation in the normal human fetal brain was investigated by in utero localized proton MR spectroscopy (1H MRS). Fifty-eight subjects at 22–39 weeks of gestational age (GA) were explored. A combination of anterior body phased-array coils (four elements) and posterior spinal coils (two to three elements) was used. Four sequences were performed (point-resolved spectroscopy (PRESS) sequence with short and long TEs (30 and 135 ms), with and without water saturation). A significant reduction in myo-inositol (myo-Ins) and choline (Cho) levels, and an increase in N-acetylaspartate (NAA) and creatine (Cr) content were observed with progressing age. A new finding is the detection of NAA as early as 22 weeks of GA. This result is probably related to the fact that oligodendrocytes (whether mature or not) express NAA, as demonstrated by in vitro studies. Cho and myo-inositol were the predominant resonances from 22 to 30 weeks and decreased gradually, probably reflecting the variations in substrate needed for membrane synthesis and myelination. The normal MRS data for the second trimester of gestation (when fetal MRI is usually performed) reported here can help determine whether brain metabolism is altered or not, especially when subtle anatomic changes are observed on conventional images. Magn Reson Med, 2006. © 2006 Wiley-Liss, Inc.
Published: 2006

37. Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

Author: K N'Guyen, Brigitte Chabrol, Nadine Girard, Laurent Villard, Nicole Philip, A Gerard, Michèle Carlier, Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Mécanique et d'Ingénierie de Bordeaux (I2M), 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)-Institut Polytechnique de Bordeaux-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Economie des filières, Institut de l'Elevage, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Université de Bordeaux (UB)-École Nationale Supérieure d'Arts et Métiers (ENSAM), HESAM Université (HESAM)-HESAM Université (HESAM)-Institut Polytechnique de Bordeaux-Centre National de la Recherche Scientifique (CNRS), Institut de l'élevage (IDELE), 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)-Arts et Métiers Sciences et Technologies, and 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)-Institut Polytechnique de Bordeaux-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Pediatrics, medicine.medical_specialty, Cerebellum, Neuropsychological Tests, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Genetics, medicine, Humans, 10. No inequality, Cerebellar hypoplasia, Genetics (clinical), X chromosome, 0303 health sciences, Mutation, business.industry, 030305 genetics & heredity, GTPase-Activating Proteins, Neuropsychology, Facies, Nuclear Proteins, Genetic Diseases, X-Linked, medicine.disease, Phenotype, Hypoplasia, Pedigree, Developmental disorder, Cytoskeletal Proteins, medicine.anatomical_structure, [SCCO.PSYC]Cognitive science/Psychology, Female, business, 030217 neurology & neurosurgery
Abstract: International audience; Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females. Our study confirms that cerebellar hypoplasia is a hallmark of this syndrome. In addition, affected males display facial similarities that can help the diagnosis. Most carrier females have mild mental retardation and subtle facial changes. (c) 2005 Wiley-Liss, Inc.
Published: 2005

38. Grading des tumeurs cérébrales pédiatriques : valeur diagnostique limitée des paramètres de la perfusion DSC et ASL à 1,5 Tesla et pour les tumeurs infratentorielles

Author: Testud, Benoit, Aix-Marseille Université - École de médecine (AMU SMPM MED), Aix-Marseille Université - Faculté des sciences médicales et paramédicales (AMU SMPM), Aix Marseille Université (AMU)-Aix Marseille Université (AMU), and Nadine Girard
Subjects: Grading, ASL, [SDV]Life Sciences [q-bio], Perfusion cérébrale, Perfusion premier passage, Tumeur cérébrale pédiatrique, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Contexte : les perfusions de premier passage « Dynamic susceptibility Contrast » (DSC) et « Arterial Spin Labeling » (ASL) sont considérées comme utiles dans le grading des tumeurs cérébrales pédiatriques, mais leurs valeurs diagnostiques en conditions réelles restent encore à déterminer. Nous proposons d’explorer la capacité de la perfusion DSC et de la perfusion ASL à distinguer les tumeurs de bas et haut grade dans une cohorte non sélectionnée de tumeurs cérébrales pédiatriques.Méthode : nous avons rétrospectivement comparé les paramètres standards de perfusion cérébrale (volume sanguin cérébral et flux sanguin cérébral) à 3T et à 1,5T de 46 patients naïfs de traitement en traçant des régions d’intérêt (ROI) par consensus de deux neuroradiologues sur les portions solides de chaque tumeur. Les capacités discriminantes des paramètres de perfusion ont été évaluées par des analyses de type ROC (Receiver Operating Characteristic) sur la cohorte entière, en fonction de la topographie sus ou sous-tentorielle et en fonction de l’intensité du champ magnétique.Résultats : les paramètres de la perfusion DSC et ASL ont montré des performances faibles à modérées pour distinguer les tumeurs de bas et haut grade (AUC entre 0,548 et 0,697). La distinction était bien meilleure pour les tumeurs sus-tentorielles (AUC entre 0,777 et 0,810) que sous-tentorielles, où aucun des paramètres n’était statistiquement significatif. Nous avons observé une meilleure différenciation entre les tumeurs de bas et haut grade à 3T qu’à 1,5T. Pour le grading des tumeurs sous-tentorielles, les paramètres temporels de la DSC ont montré des performances supérieures à celles des paramètres conventionnels (AUC ≥ 0,8).Conclusions : les perfusions DSC et ASL présentent des capacités modérées pour distinguer les tumeurs cérébrales de bas et haut grade dans une cohorte pédiatrique non sélectionnée. Les paramètres temporels de la perfusion DSC apparaissent comme une alternative intéressante aux paramètres conventionnels pour les tumeurs sous-tentorielles. L’évaluation à 3T devrait être privilégiée vis-à-vis de celle à 1,5T.
Published: 2020

39. Ageing stereotypes and prodromal Alzheimer’s disease (AGING): study protocol for an ongoing randomised clinical study

Author: Gauthier, Kim, Morand, Alexandrine, Dutheil, Frederic, Alescio-Lautier, Béatrice, Boucraut, José, Clarys, David, Eustache, Francis, Girard, Nadine, Guedj, Eric, Mazerolle, Marie, Paccalin, Marc, de la Sayette, Vincent, Zaréa, Aline, Huguet, Pascal, Michel, Bernard F, Desgranges, Béatrice, Régner, Isabelle, Laboratoire de psychologie cognitive (LPC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Neuropsychologie et imagerie de la mémoire humaine (NIMH), 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), Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Service Santé Travail Environnement [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Neurosciences sensorielles et cognitives (NSC), Laboratoire d'Immunologie [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION)-Centre National de la Recherche Scientifique (CNRS), Institut de Neurosciences de la Timone (INT), Centre de Recherches sur la Cognition et l'Apprentissage (CeRCA), Université de Poitiers-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Institut FRESNEL (FRESNEL), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Imagerie MOléculaire pour applications THéranostiques personnalisées (IMOTHEP), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Maison des Sciences de l'Homme et de l'Environnement Claude Nicolas Ledoux (UAR 3124) (MSHE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), CIC - Poitiers, Université de Poitiers-Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Direction Générale de l'Organisation des Soins (DGOS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de Neurologie Comportementale [Hôpital Sainte Marguerite - APHM], Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), This study was supported by a grant from the French National Research Agency (ANR) (grant no. ANR-16-CE36-0005-01)., Collaborators Members of AGING Consortium: Hospitals : José Broucraut, Boris Dufournet, Carine Giallo, Nadine Girard, Eric Guedj, Bernard François Michel, Nathalie Sambuchi (Marseille Public Hospitals, France: central site), Pierre Branger, Julien Cogez, Sabine Fradin, Frédérique Grandhomme, Catherine Lalevée, Nadège Loisel, Olivier Martinaud, Alice Pélerin, Mélissa Pierre, Vincent de La Sayette (Caen University Hospital, France), Alain Manrique (Cyceron Biomedical Imaging Centre, Caen, France), Vanessa Baudifier, Foucaud du Boisgueheneuc, Adrien Julian, Jean-Claude Lecron, Isabelle Merlet, Claudie Ornon, Marc Paccalin (Poitiers University Hospital, France), Sandrine Bioux, Evangeline Bliaux, Didier Hannequin, Véronique Hannier, Maud Loubeyre, Dorothée Pouliquen, Muriel Quillard-Muraine, David Wallon, Aline Zaréa (Rouen University Hospital, France). Laboratories : Kim Gauthier, Isabelle Régner (Cognitive Psychology Laboratory, Aix Marseille Univ, Marseille, France), Béatrice Alescio-Lautier, Véronique Paban, Arnaud Weill (Sensory and Cognitive Neuroscience Laboratory, Aix Marseille Univ ‑ CNRS, Marseille, France), David Clarys, Michel Isingrini, Sandrine Kalenzaga, François Rigalleau (Centre for Research on Cognition and Learning, CNRS ‑ Poitiers University ‑ Tours University, Poitiers, France), Ahmed Abbas, Julien Chavant, Béatrice Desgranges, Francis Eustache, Florence Fraisse, Mickael Laisney, Alexandrine Morand, Shailendra Segobin (Neuropsychology and Human Memory Imaging research unit, Caen University Hospital ‑ Caen Normandy University ‑ PSL Research University ‑ EPHE ‑ INSERM, Caen, France), Pierre Chausse, Frédéric Dutheil, Julien Guegan, Pascal Huguet, Guillaume Vallet (Social and Cognitive Psychology Laboratory, University of Clermont Auvergne ‑ CNRS, Clermont-Ferrand, France), Sophie Blanchet, Pascale Piolino (Memory and Cognition, Institute of Psychology and Centre for Psychiatriy and Neurosciences, INSERM ‑ University of Paris Descartes, Paris, France), Marie Mazerolle (Psychology Department and Laboratory, University of Bourgundy Franche-Comté, France)., ANR-16-CE36-0005,AGING,Impact potentiel des stéréotypes du vieillissement sur l'évaluation des déficits mnésiques et le repérage de l'état prodromal de la maladie d'Alzheimer(2016), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Département de Médecine Nucléaire [AP-HM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)- Hôpital Nord [CHU - APHM], Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), Maison des Sciences de l'Homme et de l'Environnement Claude Nicolas Ledoux (MSHE), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Eustache, Francis, Impact potentiel des stéréotypes du vieillissement sur l'évaluation des déficits mnésiques et le repérage de l'état prodromal de la maladie d'Alzheimer - - AGING2016 - ANR-16-CE36-0005 - AAPG2016 - VALID, Centre National de la Recherche Scientifique (CNRS)-Université de Tours-Université de Poitiers, and Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Aging, Stereotyping, diagnosis, Neuropsychological Tests, aging stereotypes, amyloid PET, [SCCO]Cognitive science, mild cognitive impairment, Neurology, Memory, stereotype threat, Protocol, Humans, Regression Analysis, Cognitive Dysfunction, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Alzheimer disease, Randomized Controlled Trials as Topic
Abstract: International audience; Introduction The number of older people diagnosed with amnestic mild cognitive impairment (aMCI), the prodromal state of Alzheimer's disease (AD), is increasing worldwide. However, some patients with aMCI never convert to the AD type of dementia, with some remaining stable and others reverting to normal. This overdiagnosis bias has been largely overlooked and gone unexplained. There is ample evidence in the laboratory that negative ageing stereotypes (eg, the culturally shared belief that ageing inescapably causes severe cognitive decline) contribute to the deteriorating cognitive performances of healthy older adults, leading them to perform below their true abilities. The study described here is intended to test for the first time whether such stereotypes also impair patients’ cognitive performances during neuropsychological examinations in memory clinics, resulting in overdiagnosis of aMCI. Methods and analysis The ongoing study is a 4-year randomised clinical trial comparing patients’ physiological stress and cognitive performances during neuropsychological testing in memory clinics. A total of 260 patients attending their first cognitive evaluation will be randomised to either a standard condition of test administration, assumed here to implicitly activate negative ageing stereotypes or a reduced-threat instruction condition designed to alleviate the anxiety arising from these stereotypes. Both groups will be tested with the same test battery and stress biomarkers. For 30 patients diagnosed with aMCI in each group (n=60), biomarkers of neurodegeneration and amyloidopathy will be used to distinguish between aMCI with normal versus abnormal AD biomarkers. A 9-month follow-up will be performed on all patients to identify those whose cognitive performances remain stable, deteriorate or improve. Ethics and dissemination This protocol has been approved by the French National Agency for Medicines and Health Products Safety and the Sud-Est I French Ethics Committee (2017-A00946-47). Results will be published in peer-reviewed journals. Trial registration number NCT03138018 .
Published: 2019

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