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151. Thalamic amnesia after infarct

Author

Danet, Lola, primary, Barbeau, Emmanuel J., additional, Eustache, Pierre, additional, Planton, Mélanie, additional, Raposo, Nicolas, additional, Sibon, Igor, additional, Albucher, Jean-François, additional, Bonneville, Fabrice, additional, Peran, Patrice, additional, and Pariente, Jérémie, additional

Published
2015
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152. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

Author

Rovelet-Lecrux, Anne, Legallic, Solenn, Wallon, David, Flaman, Jean-Michel, Martinaud, Olivier, Bombois, Stéphanie, Rollin-Sillaire, Adeline, Michon, Agnès, Le Ber, Isabelle, Pariente, Jérémie, Puel, Michèle, Paquet, Claire, Croisile, Bernard, Thomas-Antérion, Catherine, Vercelletto, Martine, Lévy, Richard, Frébourg, Thierry, Hannequin, Didier, Campion, Dominique, Renseigné, Non, Moreaud, Olivier, Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, 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), Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Neurologie, Hopital Neurologique, Bron, Centre de Mémoire de Ressource et Recherche (CMRR), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Neuro-anatomie fonctionnelle du comportement et de ses troubles, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Laboratoire de Psychologie et NeuroCognition (LPNC), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), Unité de Neuropsychologie, CHU Grenoble, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], CHU Saint-Etienne-Hôpital Bellevue, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), and Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])

Subjects
Male, MESH: Mutation, DNA Copy Number Variations, MESH: Age of Onset, Genome-wide association study, Biology, medicine.disease_cause, MESH: Phenotype, Genome, Article, 03 medical and health sciences, Amyloid beta-Protein Precursor, 0302 clinical medicine, MESH: Aged, 80 and over, Alzheimer Disease, MESH: Amyloid beta-Protein Precursor, PSEN2, Genetics, medicine, PSEN1, Humans, Copy-number variation, Age of Onset, Genetics (clinical), 030304 developmental biology, Aged, Aged, 80 and over, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, MESH: Humans, Middle Aged, medicine.disease, Phenotype, MESH: Male, 3. Good health, MESH: Genome-Wide Association Study, Female, MESH: DNA Copy Number Variations, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Alzheimer's disease, MESH: Female, 030217 neurology & neurosurgery, MESH: Alzheimer Disease, Genome-Wide Association Study
Abstract

International audience; Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed.

Published
2012

153. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers

Author

Wallon, David, Rousseau, Stéphane, Rovelet-Lecrux, Anne, Quillard-Muraine, Muriel, Guyant-Maréchal, Lucie, Martinaud, Olivier, Pariente, Jérémie, Puel, Michèle, Rollin-Sillaire, Adeline, Pasquier, Florence, Le Ber, Isabelle, Sarazin, Marie, Croisile, Bernard, Boutoleau-Bretonnière, Claire, Thomas-Antérion, Catherine, Paquet, Claire, Moreaud, Olivier, Gabelle, Audrey, Sellal, François, Sauvée, Mathilde, Laquerrière, Annie, Duyckaerts, Charles, Delisle, Marie-Bernadette, Streichenberger, Nathalie, Lannes, Béatrice, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Renseigné, Non, Thales Communications [Colombes], THALES [France], Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU), Imagerie cérébrale et handicaps neurologiques (ICHN), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Département de neurologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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), Département de Neurologie, Hopital Neurologique, Bron, Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Centre de Mémoire de Ressource et Recherche (CMRR), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Psychologie et NeuroCognition (LPNC), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), Unité de Neuropsychologie, CHU Grenoble, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de recherche en biothérapie (IRB), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Cellules souches normales et cancéreuses, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de neurologie, Hôpital pasteur [Colmar], Service d'Anatomie et Cytologie Pathologique [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), 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), Centre de Recherches en Cancérologie de Toulouse (CRCT), 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)-Centre National de la Recherche Scientifique (CNRS), Services de Neurochimie et de Pathologie, Hôpital Neurologique de Bron, Génétique du cancer et des maladies neuropsychiatriques (GMFC), THALES, Imagerie cérébrale et handicaps neurologiques, Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de Neurologie [Lille], Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Saint-Etienne-Hôpital Bellevue, Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Service d'Anatomie et Cytologie Pathologique [Rouen], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)

Subjects
Male, MESH: Genetic Markers, medicine.disease_cause, Amyloid beta-Protein Precursor, 0302 clinical medicine, MESH: Amyloid beta-Protein Precursor, PSEN2, PSEN1, Early-onset Alzheimer's disease, Age of Onset, Genetics, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, General Neuroscience, General Medicine, Middle Aged, MESH: Presenilin-1, 3. Good health, MESH: Presenilin-2, Psychiatry and Mental health, Clinical Psychology, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], France, Genetic Markers, MESH: Mutation, MESH: Age of Onset, Biology, Presenilin, Genetic determinism, 03 medical and health sciences, Alzheimer Disease, Presenilin-2, medicine, Presenilin-1, Humans, 030304 developmental biology, Aged, MESH: Humans, Genetic heterogeneity, MESH: Biological Markers, medicine.disease, MESH: Male, MESH: France, Genetic marker, Geriatrics and Gerontology, MESH: Female, 030217 neurology & neurosurgery, Biomarkers, MESH: Alzheimer Disease
Abstract

International audience; We describe 56 novel autosomal dominant early-onset Alzheimer disease (ADEOAD) families with PSEN1, PSEN2, and AβPP mutations or duplications, raising the total of families with mutations on known genes to 111 (74 PSEN1, 8 PSEN2, 16 AβPP, and 13 AβPP duplications) in the French series. In 33 additional families (23% of the series), the genetic determinism remained uncharacterized after this screening. Cerebrospinal fluid (CSF) biomarker levels were obtained for patients of 58 families (42 with known mutations and 16 without genetic characterization). CSF biomarkers profile was consistent with an AD diagnosis in 90% of families carrying mutations on known genes. In families without mutation, CSF biomarkers were consistent with AD diagnosis in 14/16 cases. Overall, these results support further genetic heterogeneity in the determinism of ADEOAD and suggest that other major genes remain to be characterized.

Published
2012

154. Le TOP 12 : comment interpréter les réponses comme des mesures de la capacité de la mémoire collective ?

Author

Lacot, Emilie, Barbeau, Emmanuel J, Thomas-Antérion, Catherine, Basaglia-Pappas, Sandrine, Pariente, Jérémie, Puel, Michèle, Vautier, Stéphane, Octogone Unité de Recherche Interdisciplinaire (Octogone), Université Toulouse - Jean Jaurès (UT2J), Centre de recherche cerveau et cognition (CERCO), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-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), Unité de neuropsychologie, CM2R, CHU Saint-Etienne, Imagerie cérébrale et handicaps neurologiques (ICHN), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Lacot, Emilie, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-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 Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], and CHU Toulouse [Toulouse]

Subjects
[SCCO.PSYC]Cognitive science/Psychology, [SCCO.PSYC] Cognitive science/Psychology
Abstract

International audience; Introduction. Le TOP 12 évalue la mémoire collective au travers d'une série de huit types de questions portant sur le souvenir de la vie de 12 célébrités nommément désignées. La validation de tels tests est souvent envisagée dans le seul but de prédire un critère externe au test (validation externe) ; la validation interne n'est quant à elle que très rarement étudiée. Objectifs. Montrer comment les réponses obtenues peuvent mesurer une seule grandeur hypothétique (appelée aussi construit) : la capacité de la mémoire collective. Méthodes. L'échantillon est composé de 145 sujets (91 témoins, 32 patients présentant une maladie d'Alzheimer, 21 patients ayant un trouble cognitif léger de type amnésique, 1 patient ayant une démence sémantique). Deux étapes sont nécessaires : modéliser les réponses aux items à l'aide d'un modèle de réponse à l'item à trois paramètres et tester l'unidimensionnalité des scores estimés. Résultats. Les huit modèles s'ajustent étroitement aux données. L'analyse factorielle confirmatoire ne permet pas de rejeter l'idée selon laquelle les huit types de questions mesurent bien une seule et unique grandeur hypothétique. Conclusion. La modélisation psychométrique des données observées avec le TOP 12 indique qu'elles mesurent la capacité de la mémoire collective. Mots clés : mémoire collective * TOP 12 * validation interne * modélisation psychométrique * grandeur hypothétique

Published
2011

155. Le TOP 12 : comment s'en servir pour repérer une pathologie du vieillissement cognitif ?

Author

Lacot, Emilie, Barbeau, Emmanuel J, Thomas-Antérion, Catherine, Basaglia-Pappas, Sandrine, Pariente, Jérémie, Puel, Michèle, Vautier, Stéphane, Lacot, Emilie, Octogone Unité de Recherche Interdisciplinaire (Octogone), Université Toulouse - Jean Jaurès (UT2J), Centre de recherche cerveau et cognition (CERCO), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-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), Unité de neuropsychologie, CM2R, CHU Saint-Etienne, Imagerie cérébrale et handicaps neurologiques (ICHN), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-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 Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], and CHU Toulouse [Toulouse]

Subjects
[SCCO.PSYC] Cognitive science/Psychology, [SCCO.PSYC]Cognitive science/Psychology
Abstract

International audience; Introduction. Le TOP 12 examine la mémoire collective simplement et rapidement par huit types de question portant sur le souvenir de la vie de 12 célébrités nommément désignées. Objectifs. Vérifier la corrélation entre les scores moyens et le degré de sévérité de la pathologie ; déterminer un seuil permettant de conjecturer sur l'état de la personne au vu de son score au test. Méthodes. L'échantillon est composé de 145 sujets (91 témoins, 32 patients présentant une maladie d'Alzheimer, 21 patients ayant un trouble cognitif léger de type amnésique ou MCIa, 1 patient ayant une démence sémantique). Les propriétés diagnostiques du TOP 12 ont pu être mises en avant en confrontant deux méthodologies : le centilage et la courbe Receiver Operator Characteristic (ROC). Résultats. L'ordre des moyennes et l'ordre des niveaux de gravité pathologique des groupes sont corrélés. Le seuil qui optimise le compromis entre la sensibilité (Se) et la spécificité (Sp) est donné par la méthodologie de la courbe ROC (83 points ; Se = 0,83 ; Sp = 0,70). Le cinquième centile s'avère non optimal étant donné qu'il majore les omissions. Conclusion. Cette validation externe du TOP 12 montre l'intérêt de la méthodologie de la courbe ROC. Mots clés : mémoire collective * TOP 12 * propriétés diagnostiques * centilage * courbe ROC

Published
2011

156. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Author

Nicolas, Gaël, primary, Wallon, David, additional, Charbonnier, Camille, additional, Quenez, Olivier, additional, Rousseau, Stéphane, additional, Richard, Anne-Claire, additional, Rovelet-Lecrux, Anne, additional, Coutant, Sophie, additional, Le Guennec, Kilan, additional, Bacq, Delphine, additional, Garnier, Jean-Guillaume, additional, Olaso, Robert, additional, Boland, Anne, additional, Meyer, Vincent, additional, Deleuze, Jean-François, additional, Munter, Hans Markus, additional, Bourque, Guillaume, additional, Auld, Daniel, additional, Montpetit, Alexandre, additional, Lathrop, Mark, additional, Guyant-Maréchal, Lucie, additional, Martinaud, Olivier, additional, Pariente, Jérémie, additional, Rollin-Sillaire, Adeline, additional, Pasquier, Florence, additional, Le Ber, Isabelle, additional, Sarazin, Marie, additional, Croisile, Bernard, additional, Boutoleau-Bretonnière, Claire, additional, Thomas-Antérion, Catherine, additional, Paquet, Claire, additional, Sauvée, Mathilde, additional, Moreaud, Olivier, additional, Gabelle, Audrey, additional, Sellal, François, additional, Ceccaldi, Mathieu, additional, Chamard, Ludivine, additional, Blanc, Frédéric, additional, Frebourg, Thierry, additional, Campion, Dominique, additional, and Hannequin, Didier, additional

Published
2015
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158. Water diffusion in q-space imaging as a probe of cell local viscosity and anomalous diffusion in grey and white matter

Author

Nicolas, Renaud, Aubry, Florent, Pariente, Jérémie, Franceries, Xavier, Chauveau, Nicolas, Saint-Aubert, Laure, Chollet, François, Breil, Stephane, Celsis, Pierre, Inserm, Imagerie cérébrale et handicaps neurologiques, Université de Toulouse, Philips Medical Systems, and Universität Leipzig

Subjects
diffusion, transport, ddc:530
Abstract

Extraction of accurate quantitative parameters to characterize water diffusion in complex porous media like brain tissue in neuroimaging is a challenging inverse problem, that depends on medium\''s structural and geometrical factors [1,3]. If the role of membranes is generally invoked, probe collisions with the insoluble cytoskeleton network and water hydrodynamic interactions with dissolved macromolecules and cytoskeleton occur as well [2]. The latter two interactions have been shown to determine the phenomenological “anomalous diffusion” of probes in the cytoplasm [4,5,6,7,8]. Additionally, the diffusion of small solutes in cytoplasm could be slowed by the local micro-viscosity of the aqueous phase, a phenomenon generally not taken into account in simulations. We suggest that the Grey and White Matter contrast in Diffusion Decay Imaging (DDI) could be caused by differences in cytoskeleton structures, composed respectively of actin and tubulin that could act by the elimination of one possible water diffusion pathlength by the volume occupied by the network phase. This could explain why anomalous DDI signal has been shown to be independent of membrane integrity [9]. Cytoplasm is able to rapidly shift from a sol (aqueous solutions embedded with insolubles particles) to a gel state (a colloidal solutions with a structured semi-solid and an aqueous fluid phase) or to a viscous solution when the insoluble particles become soluble. Does water have the ability of being a sensor of its local “self-viscosity” ? What is the length of the water diffusion\''s path compared to cells size ? Compared to this path length, how many cellular structures should be probed by water\''s translational diffusion ? We try to respond to these questions by investigating Diffusion Decay Imaging models and their effects on the hypothese-free q-space diffusion propagator shape [3], containing all informations concerning viscosity-slowed gaussian diffusion, structural informations [3] and restricted diffusion [1].

Published
2010

160. A Case of Logopenic Primary Progressive Aphasia with C9ORF72 Expansion and Cortical Florbetapir Binding

Author

Saint-Aubert, Laure, primary, Sagot, Catherine, additional, Wallon, David, additional, Hannequin, Didier, additional, Payoux, Pierre, additional, Nemmi, Federico, additional, Bezy, Catherine, additional, Chauveau, Nicolas, additional, Campion, Dominique, additional, Puel, Michèle, additional, Chollet, François, additional, and Pariente, Jérémie, additional

Published
2014
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161. Neuropsychological outcome after carbon monoxide exposure following a storm: a case-control study

Author

Pages, Bérengère, primary, Planton, Mélanie, additional, Buys, Sophie, additional, Lemesle, Béatrice, additional, Birmes, Philippe, additional, Barbeau, Emmanuel Joseph, additional, Maziero, Stéphanie, additional, Cordier, Laurie, additional, Cabot, Claudine, additional, Puel, Michèle, additional, Genestal, Michèle, additional, Chollet, François, additional, and Pariente, Jérémie, additional

Published
2014
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163. Contribution du bilan du GREMOTS à la recherche sur les aphasies primaires progressives : états des travaux et perspectives

Author

Tran, Thi Mai, Trogneux, Lionel, Géraudie, Amandine, Bertoux, Maxime, Lebouvier, Thibaud, and Pariente, Jérémie

Abstract

Depuis 2016, les cliniciens francophones disposent d’une batterie spécifique d’évaluation des troubles du langage dans les maladies neurodégénératives (GREMOTS), utilisée en clinique comme en recherche.

Published
2023
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164. Étude pilote en IRMf de la dynamique de la récupération neuronale du cerveau commotionné

Author

Julien, Adeline, Péran, Patrice, Greco, Lucie, Planton, Mélanie, Pariente, Jérémie, and Brauge, David

Abstract

Après une commotion cérébrale, la décision du retour au jeu avec contacts repose sur l’absence de symptômes commotionnels. Or, de récents travaux montrent qu’il persiste des anomalies cérébrales malgré la disparition des symptômes.

Published
2023
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165. DIFFERENTIAL EFFECTS OF APOE AND CSF AMYLOID ON MEMORY IMPAIRMENT IN INDIVIDUALS WITH AMNESTIC MCI USING THE CANTAB COGNITIVE BATTERY: RESULTS FROM THE EUROPEAN-ADNI STUDY

Author

Abbott, Rosemary A., Nathan, Pradeep J., Lim, Yen Ying, Galluzzi, Samantha, Marizzoni, Moira, Bagnoli, Cristina, Bartes-Faz, David, Bordet, Regis, Farotti, Lucia, Forlini, Gianluigi, Jovicich, Jorge, Marra, Camillo, Molinuevo, José Luis, Nobili, Flavio, Pariente, Jeremie, Parnetti, Lucilla, Payoux, Pierre, Ranjeva, Jean-Philippe, Rossini, Paolo Maria, Schonknecht, Peter, Hensch, Tilman, Soricelli, Andrea, Tsolaki, Magda, Visser, Pieter Jelle, Wiltgang, Jens, Blin, Olivier, and Frisoni, Giovanni B.

Published
2016
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166. CSF BETA-AMYLOID- AND APOE Ɛ4-RELATED DECLINE IN EPISODIC MEMORY OVER 12 MONTHS MEASURED USING THE CANTAB IN INDIVIDUALS WITH AMNESTIC MCI: RESULTS FROM THE EUROPEAN ADNI STUDY

Author

Nathan, Pradeep J., Abbott, Rosemary A., Lim, Yen Ying, Galluzzi, Samantha, Marizzoni, Moira, Bagnoli, Cristina, Babiloni, Claudio, Bartres-Faz, David, Bordet, Regis, Didic, Mira, Farotti, Lucia, Forloni, Gianluigi, Jovicich, Jorge, Marra, Camillo, Molinuevo, Jose Luis, Nobili, Flavio, Pariente, Jeremie, Parnetti, Lucilla, Payoux, Pierre, Ranjeva, Jean-Philippe, Rossini, Paolo, Schonknecht, Peter, Hensch, Tilman, Soricelli, Andrea, Tsolaki, Magda, Visser, Pieter Jelle, Wiltfang, Jens, Blin, Olivier, and Frisoni, Giovanni B.

Published
2016
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168. O5-02-01: Comparison of amyloid profiles using CSF and cortical florbetapir-PET imaging in prodromal Alzheimer's disease

Author

Saint-Aubert, Laure, primary, Barbeau, Emmanuel, additional, Peran, Patrice, additional, Nemmi, Federico, additional, Payoux, Pierre, additional, Bonneville, Fabrice, additional, Tafani, Mathieu, additional, Vincent, Christian, additional, Puel, Michèle, additional, Chollet, François, additional, and Pariente, Jérémie, additional

Published
2013
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169. MR, 18F-FDG, and 18F-AV45 PET Correlate With AD PSEN1 Original Phenotype

Author

Saint-Aubert, Laure, primary, Payoux, Pierre, additional, Hannequin, Didier, additional, Barbeau, Emmanuel J., additional, Campion, Dominique, additional, Delisle, Marie-Bernadette, additional, Tafani, Mathieu, additional, Viallard, Gérard, additional, Péran, Patrice, additional, Puel, Michèle, additional, Chollet, François, additional, Demonet, Jean-François, additional, and Pariente, Jérémie, additional

Published
2013
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170. N270 sensitivity to conflict strength and working memory: A combined ERP and sLORETA study.

Author

Scannella, Sébastien, Pariente, Jérémie, De Boissezon, Xavier, Castel-Lacanal, Evelyne, Chauveau, Nicolas, Causse, Mickaël, Dehais, Frédéric, and Pastor, Josette

Subjects
*EVOKED potentials (Electrophysiology), *SHORT-term memory, *ELECTROPHYSIOLOGY, *BIOMARKERS, *COMPARATIVE studies
Abstract

The event-related potential N270 component is known to be an electrophysiological marker of the supramodal conflict processing. However little is know about the factors that may modulate its amplitude. In particular, among all studies that have investigated the N270, little or no control of the conflict strength and of the load in working memory have been done leaving a lack in the understanding of this component. We designed a spatial audiovisual conflict task with simultaneous target and cross-modal distractor to evaluate the N270 sensitivity to the conflict strength (i.e., visual target with auditory distractor or auditory target with visual distractor) and the load in working memory (goal task maintenance with frequent change in the target modality). In a first session, participants had to focus on one modality for the target position to be considered (left-hand or right-hand) while the distractor could be at the same side (compatible) or at opposite side (incompatible). In a second session, we used the same set of stimuli as in the first session with an additional distinct auditory signal that clued the participants to frequently switch between the auditory and the visual targets. We found that (1) reaction times and N270 amplitudes for conflicting situations were larger within the auditory target condition compared to the visual one, (2) the increase in target maintenance effort led to equivalent increase of both reaction times and N270 amplitudes within all conditions and (3) the right dorsolateral prefrontal cortex current density was higher for both conflicting and active maintenance of the target situations. These results provide new evidence that the N270 component is an electrophysiological marker of the supramodal conflict processing that is sensitive to the conflict strength and that conflict processing and active maintenance of the task goal are two functions of a common executive attention system. [ABSTRACT FROM AUTHOR]

Published
2016
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174. Amyloid Imaging with AV45 (18F-florbetapir) in a Cognitively Normal AβPP Duplication Carrier

Author

Saint-Aubert, Laure, primary, Planton, Mélanie, additional, Hannequin, Didier, additional, Albucher, Jean-François, additional, Delisle, Marie-Bernadette, additional, Payoux, Pierre, additional, Hitzel, Anne, additional, Viallard, Gérard, additional, Péran, Patrice, additional, Campion, Dominique, additional, Laquerrière, Annie, additional, Barbeau, Emmanuel J., additional, Puel, Michéle, additional, Raposo, Nicolas, additional, Chollet, François, additional, and Pariente, Jérémie, additional

Published
2012
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175. Cerebral perfusion using ASL in patients with COVID-19 and neurological manifestations: a retrospective multicenter observational study

Author

Ardellier, François-Daniel, Baloglu, Seyyid, Sokolska, Magdalena, Noblet, Vincent, Lersy, François, Collange, Olivier, Ferré, Jean-Christophe, Maamar, Adel, Carsin-Nicol, Béatrice, Helms, Julie, Schenck, Maleka, Khalil, Antoine, Gaudemer, Augustin, Caillard, Sophie, Pottecher, Julien, Lefèbvre, Nicolas, Zorn, Pierre-Emmanuel, Matthieu, Muriel, Brisset, Jean Christophe, Boulay, Clotilde, Mutschler, Véronique, Hansmann, Yves, Mertes, Paul-Michel, Schneider, Francis, Fafi-Kremer, Samira, Ohana, Mickael, Meziani, Ferhat, Meyer, Nicolas, Yousry, Tarek, Anheim, Mathieu, Cotton, François, Jäger, Hans Rolf, Kremer, Stéphane, Bonneville, Fabrice, Adam, Gilles, Martin-Blondel, Guillaume, Pariente, Jérémie, Geeraerts, Thomas, Oesterlé, Hélène, Bolognini, Federico, Messie, Julien, Hmeydia, Ghazi, Benzakoun, Joseph, Oppenheim, Catherine, Constans, Jean-Marc, Metanbou, Serge, Heintz, Adrien, Bapst, Blanche, Megdiche, Imen, Jager, Lavinia, Nesser, Patrick, Mba, Yannick Talla, Tourdias, Thomas, Coutureau, Juliette, Hemmert, Céline, Feuerstein, Philippe, Sebag, Nathan, Carre, Sophie, Alleg, Manel, Lecocq, Claire, Schmitt, Emmanuel, Anxionnat, René, Zhu, François, Forestier, Géraud, Rouchaud, Aymeric, Comby, Pierre-Olivier, Ricolfi, Frederic, Thouant, Pierre, Grand, Sylvie, Krainik, Alexandre, de Beaurepaire, Isaure, Bornet, Grégoire, Lacalm, Audrey, Miailhes, Patrick, Pique, Julie, Boutet, Claire, Fabre, Xavier, Claise, Béatrice, Mirafzal, Sonia, Calvet, Laure, Desal, Hubert, Berge, Jérome, Boulouis, Grégoire, Kazemi, Apolline, Pyatigorskaya, Nadya, Lecler, Augustin, Saleme, Suzana, Edjlali-Goujon, Myriam, Kerleroux, Basile, Brisset, Jean-Christophe, and Chenaf, Samir

Abstract

•In a multicentric cohort of 59 patients suffering from severe COVID-19, ASL perfusion was abnormal in 53, hypoperfusion occurred in 48 (with a predominant fronto-temporo-polar pattern), whereas hyperperfusion occurred in 9.•Post-contrast FLAIR leptomeningeal enhancement was the only parameter with a significant association with cerebral perfusion, as it was tightly linked to hyperperfusion.•Frontotemporal hypoperfusion was also found in quantitative subgroup analysis compared to healthy subjects.

Published
2023
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176. Poststroke Conscious Visual Deficit

Author

Raposo, Nicolas, primary, Cauquil, Alexandra Séverac, additional, Albucher, Jean François, additional, Acket, Blandine, additional, Celebrini, Simona, additional, Pariente, Jérémie, additional, Cognard, Christophe, additional, Loubinoux, Isabelle, additional, and Chollet, François, additional

Published
2011
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181. Alzheimer's patients engage an alternative network during a memory task

Author

Pariente, Jérémie, primary, Cole, Susanna, additional, Henson, Richard, additional, Clare, Linda, additional, Kennedy, Angus, additional, Rossor, Martin, additional, Cipoloti, Lisa, additional, Puel, Michèle, additional, Demonet, Jean Francois, additional, Chollet, Francois, additional, and Frackowiak, Richard S. J., additional

Published
2005
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184. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Author

Nicolas, Gaël, Wallon, David, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Rovelet-Lecrux, Anne, Coutant, Sophie, Le Guennec, Kilan, Bacq, Delphine, Garnier, Jean-Guillaume, Olaso, Robert, Boland, Anne, Meyer, Vincent, Deleuze, Jean-François, Munter, Hans Markus, Bourque, Guillaume, Auld, Daniel, Montpetit, Alexandre, Lathrop, Mark, Guyant-Maréchal, Lucie, Martinaud, Olivier, Pariente, Jérémie, Rollin-Sillaire, Adeline, Pasquier, Florence, Le Ber, Isabelle, Sarazin, Marie, Croisile, Bernard, Boutoleau-Bretonnière, Claire, Thomas-Antérion, Catherine, Paquet, Claire, Sauvée, Mathilde, Moreaud, Olivier, Gabelle, Audrey, Sellal, François, Ceccaldi, Mathieu, Chamard, Ludivine, Blanc, Frédéric, Frebourg, Thierry, Campion, Dominique, and Hannequin, Didier

Abstract

Causative variants in APP, PSEN1 or PSEN2 account for a majority of cases of autosomal dominant early-onset Alzheimer disease (ADEOAD, onset before 65 years). Variant detection rates in other EOAD patients, that is, with family history of late-onset AD (LOAD) (and no incidence of EOAD) and sporadic cases might be much lower. We analyzed the genomes from 264 patients using whole-exome sequencing (WES) with high depth of coverage: 90 EOAD patients with family history of LOAD and no incidence of EOAD in the family and 174 patients with sporadic AD starting between 51 and 65 years. We found three PSEN1 and one PSEN2 causative, probably or possibly causative variants in four patients (1.5%). Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated. For this analysis, we included an additional set of 160 patients who were previously shown to be free of causative variants in PSEN1, PSEN2 and APP: 107 ADEOAD patients and 53 sporadic EOAD patients with an age of onset before 51 years. In these 420 patients, we detected no variant that might modify the function of the 20 dementia-causing genes. We conclude that EOAD patients with family history of LOAD and no incidence of EOAD in the family or patients with sporadic AD starting between 51 and 65 years have a low variant-detection rate in AD genes.

Published
2016
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185. Cerebrospinal fluid YKL‐40 level evolution is associated with autoimmune encephalitis remission.

Author

Dorcet, Guillaume, Benaiteau, Marie, Pariente, Jérémie, Ory‐Magne, Fabienne, Cheuret, Emmanuel, Rafiq, Marie, Brooks, Wesley, Puissant‐Lubrano, Bénédicte, Fortenfant, Françoise, Renaudineau, Yves, and Bost, Chloé

Subjects
*CEREBROSPINAL fluid, *ENCEPHALITIS, *ANTI-NMDA receptor encephalitis, *NEUROGLIA, *DISEASE progression, *SYMPTOMS
Abstract

Objective: Because of its heterogeneity in clinical presentation and course, predicting autoimmune encephalitis (AIE) evolution remains challenging. Hence, our aim was to explore the correlation of several biomarkers with the clinical course of disease. Methods: Thirty‐seven cases of AIE were selected retrospectively and divided into active (N = 9), improved (N = 12) and remission (N = 16) AIE according to their disease evolution. Nine proteins were tested in both serum and cerebrospinal fluid (CSF) at diagnosis (T0) and during the follow‐up (T1), in particular activated MMP‐9 (MMP‐9A) and YKL‐40 (or chitinase 3‐like 1). Results: From diagnosis to revaluation, AIE remission was associated with decreased YKL‐40 and MMP‐9A levels in the CSF, and with decreased NfL and NfH levels in the serum. The changes in YKL‐40 concentrations in the CSF were associated with (1) still active AIE when increasing >10% (P‐value = 0.0093); (2) partial improvement or remission when the changes were between +9% and −20% (P‐value = 0.0173); and remission with a reduction > −20% (P‐value = 0.0072; overall difference between the three groups: P‐value = 0.0088). At T1, the CSF YKL‐40 levels were significantly decreased between active and improved as well as improved and remission AIE groups but with no calculable threshold because of patient heterogeneity. Conclusion: The concentration of YKL‐40, a cytokine‐like proinflammatory protein produced by glial cells, is correlated in the CSF with the clinical course of AIE. Its introduction as a biomarker may assist in following disease activity and in evaluating therapeutic response. [ABSTRACT FROM AUTHOR]

Published
2023
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187. C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing.

Author

Le Ber, Isabelle, Camuzat, Agnès, Guillot-Noel, Lena, Hannequin, Didier, Lacomblez, Lucette, Golfier, Véronique, Puel, Michèle, Martinaud, Olivier, Deramecourt, Vincent, Rivaud-Pechoux, Sophie, Millecamps, Stéphanie, Vercelletto, Martine, Couratier, Philippe, Sellal, François, Pasquier, Florence, Salachas, François, Thomas-Antérion, Catherine, Didic, Mira, Pariente, Jérémie, and Seilhean, Danielle

Subjects
DEMENTIA, FRONTOTEMPORAL dementia, BRAIN diseases, GENETICS of amyotrophic lateral sclerosis, GENETIC testing, GENETICS
Abstract

Frontotemporal dementia (FTD) refers to a disease spectrum including the behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy/corticobasal degeneration syndrome (PSP/CBDS), and FTD with amyotrophic lateral sclerosis (FTD-ALS). A GGGGCC expansion in C9ORF72 is a major cause of FTD and ALS. C9ORF72 was analyzed in 833 bvFTD, FTD-ALS, PPA, and PSP/CBDS probands; 202 patients from 151 families carried an expansion. C9ORF72 expansions were much more frequent in the large subgroup of patients with familial FTD-ALS (65.9%) than in those with pure FTD (12.8%); they were even more frequent than in familial pure ALS, according to estimated frequencies in the literature (23-50%). The frequency of carriers in non-familial FTD-ALS (12.7%) indicates that C9ORF72 should be analyzed even when family history is negative. Mutations were detected in 6.8% of PPA patients, and in 3.2% of patients with a clinical phenotype of PSP, thus enlarging the phenotype spectrum of C9ORF72. Onset was later in C9ORF72 (57.4 years, 95%CI: 55.9-56.1) than in MAPT patients (46.8, 95%CI: 43.0-50.6; p = 0.00001) and the same as in PGRN patients (59.6 years; 95%CI: 57.6-61.7; p = 0.4). ALS was more frequent in C9ORF72 than in MAPT and PGRN patients; onset before age 50 and parkinsonism were indicative of MAPT mutations, whereas hallucinations were indicative of PGRN mutations; prioritization of genetic testing is thus possible. Penetrance was age- and gender-dependent: by age 50, 78% of male carriers were symptomatic, but only 52% of females. This can also guide genetic testing and counseling. A flowchart for genetic testing is thus proposed. [ABSTRACT FROM AUTHOR]

Published
2013
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188. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Author

Nicolas, Gaël, Pottier, Cyril, Maltête, David, Coûtant, Sophie, Rovelet-Lecrux, Anne, Legallic, Solenn, Rousseau, Stephane, Vaschalde, Yvan, Guyant-Maréchal, Lucie, Augustin, Jérôme, Martinaud, Olivier, Defebvre, Luc, Krystkowiak, Pierre, Pariente, Jérémie, Clanet, Michel, Labauge, Pierre, Ayrignac, Xavier, Lefaucheur, Romain, Le Ber, Isabelle, and Frébourg, Thierry

Published
2013
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189. MR, 18F-FDG, and 18F-AV45 PET Correlate With AD PSEN1 Original Phenotype.

Author

Saint-Aubert, Laure, Payoux, Pierre, Hannequin, Didier, Barbeau, Emmanuel J., Campion, Dominique, Delisle, Marie-Bernadette, Tafani, Mathieu, Viallard, Gérard, Péran, Patrice, Puel, Michèle, Chollet, François, Demonet, Jean-François, and Pariente, Jérémie

Abstract

The article presents a case study of a 37-year-old man who was admitted to the hospital with complaints of progressive gait disorder followed by cognitive difficulties. His structural magnetic resonance imaging (MRI) scan revealed posterior cortical atrophy on T1 sequence. His thorough analysis revealed a higher bilateral hippocampal AV45 uptake in patient than in patients with Alzheimer's disease.

Published
2013
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190. Amyloid Imaging with AV45 (18F-florbetapir) in a Cognitively Normal AβPP Duplication Carrier.

Author

Saint-Aubert, Laure, Planton, Mélanie, Hannequin, Didier, Albucher, Jean-François, Delisle, Marie-Bernadette, Payoux, Pierre, Hitzel, Anne, Viallard, Gérard, Péran, Patrice, Campion, Dominique, Laquerrière, Annie, Barbeau, Emmanuel J., Puel, Michéle, Raposo, Nicolas, Chollet, François, and Pariente, Jérémie

Subjects
GENETICS of Alzheimer's disease, CHROMOSOME duplication, AMYLOID, MAGNETIC resonance imaging, NEUROLOGICAL disorders
Abstract

We report the case of a 62-year-old asymptomatic carrier of AβPP gene duplication. He was investigated by MRI and the amyloid ligand 18F-AV45, and compared to Alzheimer's disease patients (n = 11) and healthy controls (n = 11). The neuropsychological examination was normal. Cortical thickness and AV45 retention were comparable to Alzheimer's disease patients. AβPP duplication was diagnosed because cerebral amyloid angiopathy and Alzheimer's disease pathology were found on the neuropathological examination of his youngest brother, who died at 42 from intracerebral hemorrhage. This is the first description of a pre-symptomatic AβPP duplication carrier over 60, despite widespread cerebral amyloid angiopathy, 'Alzheimer's like' atrophy, and amyloid deposition. [ABSTRACT FROM AUTHOR]

Published
2012
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191. Visual recognition memory: A double anatomo-functional dissociation.

Author

Barbeau, Emmanuel J., Pariente, Jérémie, Felician, Olivier, and Puel, Michèle

Abstract

There is an ongoing debate regarding the respective role of anterior subhippocampal structures and the hippocampus in recognition memory. Here, we report a double anatomo-functional dissociation observed in two brain-damaged patients, FRG and JMG. They both suffered from complete destruction of left MTL structures. In the right hemisphere however, FRG sustained extensive lesions to the hippocampus sparing anterior subhippocampal structures, while JMG suffered from the reversed pattern of lesion, i.e., extensive damage to anterior subhippocampal structures but preserved hippocampus. FRG was severely amnesic and failed all recall tasks involving visual material, but exhibited normal performance at a large battery of visual recognition memory tasks. JMG was not amnesic and showed the opposite pattern of performance. These results strongly support the view that right anterior subhippocampal structures are a critical relay for visual recognition memory in the human. © 2010 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2011
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193. Rôle de la neuropsychologie dans l’exploration des TDAH

Author

Planton, Mélanie, Lemesle, Béatrice, Cousineau, Marianne, Milongo-Rigal, Emilie, Salles, Juliette, and Pariente, Jérémie

Abstract

Initialement reconnu comme un syndrome de l’enfance, les données scientifiques indiquent qu’une proportion significative d’enfants atteints du trouble du déficit de l’attention avec ou sans hyperactivité (TDA/H) continue de présenter des symptômes à l’âge adulte. Le diagnostic reste clinique en dépit des caractéristiques cliniques, neuropsychologiques, biologiques, génétiques ou de neuroimagerie identifiées mais insuffisantes individuellement pour confirmer le diagnostic. Considérant que le TDA/H est basé sur un modèle neuropsychologique, nous examinerons dans un premier temps la nature des troubles cognitifs à travers les données issues des méta-analyses de l’adulte et la valeur prédictive des outils neuropsychologiques. Les résultats de ces études attestent que les fonctions d’inhibition, de flexibilité mentale, de vigilance et d’attention soutenue sont les plus sensibles à l’identification du TDAH de l’adulte. Si les valeurs prédictives positives des tests neuropsychologiques spécifiques de ces troubles sont bonnes, les valeurs prédictives négatives restent quant à elles insatisfaisantes.

Published
2022
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194. Maladie d’Alzheimer et épilepsie : des liens physiopathologiques ?

Author

Szabo, Anna B., Dahan, Lionel, Curot, Jonathan, Pariente, Jérémie, Debs, Rachel, Denuelle, Marie, and Valton, Luc

Abstract

En 1911, le Dr Alois Alzheimer a décrit plusieurs crises convulsives chez l’un des premiers cas identifiés de la pathologie neuroévolutive portant désormais son nom. Cependant le lien physiopathologique entre la maladie d’Alzheimer (MA) et l’épilepsie est resté peu exploré pendant un siècle entier, ou bien seulement considéré comme un symptôme des formes familiales extrêmement rares de la MA. Tout a changé au début des années 2000, avec plusieurs publications décrivant, d’une part, une incidence accrue des crises d’épilepsie chez les patients atteints des formes sporadiques de la MA, et d’autre part, le rôle des plaques Aβ et des enchevêtrements neurofibrillaires dans les activités paroxystiques spontanées dans des modèles génétiques précliniques de la pathologie. Ces publications ont permis d’introduire la perspective d’un dysfonctionnement de réseaux neuronaux dans cette pathologie et ont déclenché une avalanche d’études sur la caractérisation de l’épilepsie chez les patients MA ainsi que sur les mécanismes sous-jacents de cette comorbidité. Ces travaux de recherche ont mis en évidence plusieurs interrelations entre l’épilepsie et la MA, commençant par l’impact des agrégats Aβ et Tau, mais également l’implication de facteurs liés aux perturbations du sommeil, l’altération du fonctionnement du système glymphatique ou bien des altérations des réseaux neuronaux de l’hippocampe, l’aire la plus touchée par les activités paroxystiques dans cette comorbidité. Finalement, des études chez des modèles animaux de la MA suggèrent une efficacité particulière de certains traitements antiépileptiques sur les activités paroxystiques et sur des symptômes de la MA. Ceci parait d’autant plus important au vue des nombreuses études chez les patients épileptiques dévoilant la contribution potentielle de ces activités paroxystiques au dysfonctionnement mnésique caractéristique de la MA ainsi qu’à la progression de la pathologie.

Published
2022
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195. Étude des troubles du sommeil chez les patients atteints d’une encéphalite auto-immune

Author

Tisserand, Camille, Debs, Rachel, Benaiteau, Marie, Rafiq, Marie, Pariente, Jérémie, Valton, Luc, and Curot, Jonathan

Abstract

L’encéphalite auto-immune (EAI) est un groupe hétérogène de maladies inflammatoires du système nerveux, susceptible d’entraîner une altération du sommeil. Même si le nombre d’études sur le sommeil dans les EAI a augmenté ces dernières années, celles-ci sont basées sur des petites cohortes et n’étudient pas ou peu la microarchitecture et l’électrogenèse du sommeil.

Published
2022
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196. Primary progressive aphasias associated with C9orf72 expansions: Another side of the story

Author

Saracino, Dario, Géraudie, Amandine, Remes, Anne M., Ferrieux, Sophie, Noguès-Lassiaille, Marie, Bottani, Simona, Cipriano, Lorenzo, Houot, Marion, Funkiewiez, Aurélie, Camuzat, Agnès, Rinaldi, Daisy, Teichmann, Marc, Pariente, Jérémie, Couratier, Philippe, Boutoleau-Bretonnière, Claire, Auriacombe, Sophie, Etcharry-Bouyx, Frédérique, Levy, Richard, Migliaccio, Raffaella, Solje, Eino, Le Ber, Isabelle, Auriacombe, Sophie, Belliard, Serge, Blanc, Frédéric, Benchetrit, Eve, Bertin, Hugo, Boutoleau-Bretonnière, Claire, Bertrand, Anne, Bissery, Anne, Bombois, Stéphanie, Boncoeur, Marie-Paule, Brice, Alexis, Ceccaldi, Mathieu, Chastan, Mathieu, Chen, Yaohua, Chupin, Marie, Colliot, Olivier, Couratier, Philippe, Delbeuck, Xavier, Delmaire, Christine, Deramecourt, Vincent, Didic, Mira, Duyckaerts, Charles, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gerardin, Emmanuel, Golfier, Véronique, Habert, Marie-Odile, Hannequin, idier, Lacomblez, Lucette, Lagarde, Julien, Lautrette, Géraldine, Le Ber, Isabelle, Le Toullec, Benjamin, Mackowiak, Marie-Anne, Martinaud, Olivier, Michel, Bernard-François, Monteil, Jacques, Oya, Assi-Hervé, Pariente, Jérémie, Pasquier, Florence, Petyt, Grégory, Rinaldi, Daisy, Rollin-Sillaire, Adeline, Roué-Jagot, Carole, Sayah, Sabrina, Sarazin, Marie, Thauvin-Robinet, Christel, Thomas-Anterion, Catherine, Sellal, François, Vercelletto, Martine, and Wallon, David

Abstract

C9orf72repeat expansions are rarely associated with primary progressive aphasias (PPA). In-depth characterization of the linguistic deficits, and the underlying patterns of grey-matter atrophy in PPA associated with the C9orf72expansions (PPA-C9orf72) are currently lacking. In this study, we comprehensively analyzed a unique series of 16 patients affected by PPA-C9orf72. Eleven patients were issued from two independent French and Finnish cohorts, and five were identified by means of literature review. Voxel-based morphometry (VBM) studies were performed on three of them.

Published
2021
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197. Genetics of early-onset Alzheimer disease in France

Author

Wallon, David, Rovelet-Lecrux, Anne, Martinaud, Olivier, Legallic, Solène, Pottier, Cyril, Bombois, Stephanie, Mackowiak, Marie-Anne, Pasquier, Florence, Michon, Agnes, Leber, Isabelle, Dubois, Bruno, Pariente, Jeremie, Paquet, Claire, Croisile, Bernard, Thomas-Anterion, Catherine, Hannequin, Didier, and Campion, Dominique

Published
2011
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198. Primary Progressive Aphasia Associated With Mutations: New Insights Into the Non-amyloid Logopenic Variant.

Author

Saracino, Dario, Ferrieux, Sophie, Nogués-Lasslaille, Marie, Noguès-Lassiaille, Marie, Houot, Marion, Funkiewiez, Aurélie, Sellami, Leila, Deramecourt, Vincent, Pasquier, Florence, Couratier, Philippe, Pariente, Jérémie, Géraudie, Amandine, Epelbaum, Stéphane, Wallon, David, Hannequin, Didier, Martinaud, Olivier, Clot, Fabienne, Camuzat, Agnès, Bottani, Simona, and Rinaldi, Daisy

Published
2021
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199. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Author

Legati, Andrea, Sears, Renee L, Ramos, Eliana Marisa, Lang, Anthony E, Miedzybrodzka, Zosia, Simpson, Sheila A, Paucar, Martin, Svenningsson, Per, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Striano, Pasquale, Unni, Vivek K, Vanakker, Olivier, Giovannini, Donatella, López-Sánchez, Uriel, Sitbon, Marc, Battini, Jean-Luc, and Wessels, Marja W

Subjects
CALCIFICATION, NEUROLOGICAL disorders, CALCIUM phosphate, EXONS (Genetics), HOMEOSTASIS
Abstract

Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC. [ABSTRACT FROM AUTHOR]

Published
2015
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200. Robust thalamic nuclei segmentation from T1-weighted MRI using polynomial intensity transformation.

Author

Vidal, Julie P., Danet, Lola, Péran, Patrice, Pariente, Jérémie, Bach Cuadra, Meritxell, Zahr, Natalie M., Barbeau, Emmanuel J., and Saranathan, Manojkumar

Subjects
*THALAMIC nuclei, *CONVOLUTIONAL neural networks, *MAGNETIC resonance imaging, *POLYNOMIAL approximation, *POLYNOMIALS
Abstract

Accurate segmentation of thalamic nuclei, crucial for understanding their role in healthy cognition and in pathologies, is challenging to achieve on standard T1-weighted (T1w) magnetic resonance imaging (MRI) due to poor image contrast. White-matter-nulled (WMn) MRI sequences improve intrathalamic contrast but are not part of clinical protocols or extant databases. In this study, we introduce histogram-based polynomial synthesis (HIPS), a fast preprocessing transform step that synthesizes WMn-like image contrast from standard T1w MRI using a polynomial approximation for intensity transformation. HIPS was incorporated into THalamus Optimized Multi-Atlas Segmentation (THOMAS) pipeline, a method developed and optimized for WMn MRI. HIPS-THOMAS was compared to a convolutional neural network (CNN)-based segmentation method and THOMAS modified for the use of T1w images (T1w-THOMAS). The robustness and accuracy of the three methods were tested across different image contrasts (MPRAGE, SPGR, and MP2RAGE), scanner manufacturers (PHILIPS, GE, and Siemens), and field strengths (3 T and 7 T). HIPS-transformed images improved intra-thalamic contrast and thalamic boundaries, and HIPS-THOMAS yielded significantly higher mean Dice coefficients and reduced volume errors compared to both the CNN method and T1w-THOMAS. Finally, all three methods were compared using the frequently travelling human phantom MRI dataset for inter- and intra-scanner variability, with HIPS displaying the least inter-scanner variability and performing comparably with T1w-THOMAS for intra-scanner variability. In conclusion, our findings highlight the efficacy and robustness of HIPS in enhancing thalamic nuclei segmentation from standard T1w MRI. [ABSTRACT FROM AUTHOR]

Published
2024
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