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6. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Author

Hannequin, Didier, Campion, Dominique, Wallon, David, Martinaud, Olivier, Zarea, Aline, Nicolas, Gaël, Rollin-Sillaire, Adeline, Bombois, Stéphanie, Mackowiak, Marie-Anne, Deramecourt, Vincent, Pasquier, Florence, Michon, Agnès, Le Ber, Isabelle, Dubois, Bruno, Godefroy, Olivier, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Chamard, Ludivine, Berger, Eric, Magnin, Eloi, Dartigues, Jean-Francois, Auriacombe, Sophie, Tison, François, Sayette, Vincent de la, Castan, Dominique, Dionet, Elsa, Sellal, Francois, Rouaud, Olivier, Thauvin, Christel, Moreaud, Olivier, Sauvée, Mathilde, Formaglio, Maïté, Mollion, Hélène, Roullet-Solignac, Isabelle, Vighetto, Alain, Croisile, Bernard, Didic, Mira, Félician, Olivier, Koric, Lejla, Ceccaldi, Mathieu, Gabelle, Audrey, Marelli, Cecilia, Labauge, Pierre, Jonveaux, Thérèse, Vercelletto, Martine, Boutoleau-Bretonnière, Claire, Castelnovo, Giovanni, Paquet, Claire, Dumurgier, Julien, Hugon, Jacques, De Boisgueheneuc, Foucauld, Belliard, Serge, Bakchine, Serge, Sarazin, Marie, Barrellon, Marie-Odile, Laurent, Bernard, Blanc, Frédéric, Pariente, Jérémie, Jurici, Snejana, Bellenguez, Céline, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Le Guennec, Kilan, Chauhan, Ganesh, Rousseau, Stéphane, Richard, Anne Claire, Boland, Anne, Bourque, Guillaume, Munter, Hans Markus, Olaso, Robert, Meyer, Vincent, Letenneur, Luc, Redon, Richard, Dartigues, Jean-François, Tzourio, Christophe, Frebourg, Thierry, Lathrop, Mark, Deleuze, Jean-François, Genin, Emmanuelle, Amouyel, Philippe, Debette, Stéphanie, and Lambert, Jean-Charles

Published
2017
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9. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Author

Lanoiselée, Hélène-Marie, Nicolas, Gaël, Wallon, David, Rovelet-Lecrux, Anne, Lacour, Morgane, Rousseau, Stéphane, Richard, Anne-Claire, Pasquier, Florence, Rollin-Sillaire, Adeline, Martinaud, Olivier, Quillard-Muraine, Muriel, de la Sayette, Vincent, Boutoleau-Bretonniere, Claire, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Sarazin, Marie, le Ber, Isabelle, Epelbaum, Stéphane, Jonveaux, Thérèse, Rouaud, Olivier, Ceccaldi, Mathieu, Félician, Olivier, Godefroy, Olivier, Formaglio, Maite, Croisile, Bernard, Auriacombe, Sophie, Chamard, Ludivine, Vincent, Jean-Louis, Sauvée, Mathilde, Marelli-Tosi, Cecilia, Gabelle, Audrey, Ozsancak, Canan, Pariente, Jérémie, Paquet, Claire, Hannequin, Didier, and Campion, Dominique

Subjects
Genetic testing -- Usage -- Research, Gene mutation -- Physiological aspects -- Research, Alzheimer's disease -- Genetic aspects -- Development and progression -- Research, Biological sciences
Abstract

Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. Methods and findings We report here a novel update (2012-2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) [less than or equal to]65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers-total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid [beta] (A[beta]).sub.42 -in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. Conclusions Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole sample of families and isolated cases, definite pathogenicity is currently established for only 77%, emphasizing the need to pursue the effort to classify variants., Author(s): Hélène-Marie Lanoiselée 1,2, Gaël Nicolas 3, David Wallon 1, Anne Rovelet-Lecrux 3, Morgane Lacour 1, Stéphane Rousseau 3, Anne-Claire Richard 3, Florence Pasquier 4,5, Adeline Rollin-Sillaire 4,5, Olivier Martinaud [...]

Published
2017
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11. What is the clinical impact of cerebrospinal fluid biomarkers on final diagnosis and management in patients with mild cognitive impairment in clinical practice? Results from a nation-wide prospective survey in France

Author

Cognat, Emmanuel, primary, Mouton Liger, François, additional, Troussière, Anne-Cécile, additional, Wallon, David, additional, Dumurgier, Julien, additional, Magnin, Eloi, additional, Duron, Emmanuelle, additional, Gabelle, Audrey, additional, Croisile, Bernard, additional, de la Sayette, Vincent, additional, Jager, Alain, additional, Blanc, Frederic, additional, Bouaziz-Amar, Elodie, additional, Miguet-Alfonsi, Carole, additional, Quillard, Muriel, additional, Schraen, Susanna, additional, Philippi, Nathalie, additional, Beaufils, Emilie, additional, Pasquier, Florence, additional, Hannequin, Didier, additional, Robert, Philippe, additional, Hugon, Jacques, additional, and Paquet, Claire, additional

Published
2019
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12. App, psen1, and psen2 mutations in early-onset alzheimer disease:a genetic screening study of familial and sporadic cases

Author

Lanoiselée, Hélène-Marie, Nicolas, Gaël, Wallon, David, Rovelet-Lecrux, Anne, Lacour, Morgane, Rousseau, Stéphane, Richard, Anne-Claire, Pasquier, Florence, Rollin-Sillaire, Adeline, Martinaud, Olivier, Quillard-Muraine, Muriel, De La Sayette, Vincent, Boutoleau-Bretonnière, Claire, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Sarazin, Marie, Le Ber, Isabelle, Epelbaum, Stéphane, Jonveaux, Thérèse, Rouaud, Olivier, Ceccaldi, Mathieu, Felician, Olivier, Godefroy, Olivier, Formaglio, Maite, Croisile, Bernard, Auriacombe, Sophie, Chamard, Ludivine, Vincent, Jean-Louis, Sauvee, Mathilde, Marelli-Tosi, Cecilia, Gabelle, Audrey, Ozsancak, Canan, Pariente, Jérémie, Paquet, Claire, Hannequin, Didier, Campion, Dominique, CHU Lille, CNRS, Inserm, Université de Lille, Troubles cognitifs dégénératifs et vasculaires - U1171, Troubles cognitifs dégénératifs et vasculaires - U 1171 [TCDV], Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre Hospitalier Régional d'Orléans (CHRO), Service de génétique [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Département de neurologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Service de neurologie [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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), Service de neurologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Neurologie générale, vasculaire et dégénérative (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Service de neurologie [Amiens], CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Service de Neurologie [Lyon], CHU Lyon, Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Pôle Psychiatrie et Neurologie [Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Biomarqueurs CArdioNeuroVASCulaires (BioCANVAS), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), CHU Toulouse [Toulouse], 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 Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional d'Orléans (CHR), Troubles cognitifs dégénératifs et vasculaires (U1171), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-INSERM, CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7)

Subjects
Adult, Male, Heredity, Physiology, Substitution mutation, Gene Identification and Analysis, Research and Analysis Methods, Biochemistry, Nervous System, Amyloid beta-Protein Precursor, Database and Informatics Methods, Alzheimer Disease, Presenilin-2, Mental Health and Psychiatry, Presenilin-1, Genetics, Medicine and Health Sciences, Humans, Genetic Testing, Age of Onset, Cerebrospinal Fluid, Mutation databases, Biology and Life Sciences, Neurodegenerative Diseases, Genetic screens, Middle Aged, Alzheimer's disease, Body Fluids, Mutation detection, Biological Databases, Neurology, Mutation, Female, Dementia, France, Anatomy, Biomarkers, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Research Article
Abstract

Background Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. Methods and findings We report here a novel update (2012–2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers—total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid β (Aβ)42—in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. Conclusions Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole sample of families and isolated cases, definite pathogenicity is currently established for only 77%, emphasizing the need to pursue the effort to classify variants., In a cohort including patients with familial Alzheimer disease as well as sporadic cases of early-onset Alzheimer disease, Dominique Campion and colleagues identify previously unreported mutations to PSEN1 and PSEN2., Author summary Why was this study done? Mutations in the amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) genes are a known cause of familial, early-onset Alzheimer disease (EOAD) (onset below age 65). However, in order to improve genetic counseling, it is necessary to report mutational screening from large cohorts of patients. What did the researchers do and find? In the present study, we performed sequencing of the APP, PSEN1, and PSEN2 genes in EOAD families and in 129 sporadic cases. Mutations were identified in 170 EOAD families and in 18 sporadic cases. In 10 sporadic cases, we showed that the mutation was absent in the parents, indicating that it occurred “de novo.” What do these findings mean? Sufficient evidence of pathogenicity is reached for 77% of the 90 distinct mutations identified in this sample, allowing their use in genetic counseling. Our results suggest a potential benefit to screening nonfamilial Alzheimer disease (AD) cases with onset before 50 y for APP, PSEN1, and PSEN2 mutations.

Published
2017

13. Reduced basal forebrain atrophy progression in a randomized Donepezil trial in prodromal Alzheimer's disease

Author

Cavedo, Enrica, Grothe, Michel J, Hampel, Harald, Group, Hippocampus Study, Croisile, Bernard, Louis Tisserand, Guy, Bonafe, Alain, Ousset, Pierre J, Rouaud, Olivier, Ricolfi, Fréderic, Vighetto, Alain, Pasquier, Florence, Colliot, Olivier, Delmaire, Christine, Ceccaldi, Mathieu, Girard, Nadine, Duveau, Françoise, Sarazin, Marie, Lista, Simone, Chupin, Marie, Dormont, Didier, Houot, Marion, Lehéricy, Stephane, Teipel, Stefan, Dubois, Bruno, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), 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], German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Algorithms, models and methods for images and signals of the human brain (ARAMIS), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Sorbonne Université (SU), Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Rostock, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre 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], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Service de neuroradiologie diagnostique et fonctionnelle [CHU Pitié-Salpêtrière], Centre de Neuro-Imagerie de Recherche (CENIR), Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, 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)-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), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Inria de Paris

Subjects
drug effects [Basal Forebrain], drug effects [Gray Matter], Male, therapeutic use [Donepezil], diagnostic imaging [Basal Forebrain], Basal Forebrain, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, pathology [Basal Forebrain], pathology [Cholinergic Neurons], prevention & control [Atrophy], Prodromal Symptoms, Article, ultrastructure [Cholinergic Neurons], pathology [Alzheimer Disease], methods [Magnetic Resonance Imaging], Alzheimer Disease, mental disorders, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, drug therapy [Alzheimer Disease], Humans, Donepezil, Gray Matter, administration & dosage [Donepezil], Aged, drug effects [Cholinergic Neurons], [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], drug therapy [Atrophy], diagnostic imaging [Atrophy], Magnetic Resonance Imaging, Cholinergic Neurons, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Disease Progression, Female, Atrophy, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, ddc:600
Abstract

Hippocampus Study Group; International audience; Acetylcholinesterase inhibitors are approved drugs currently used for the treatment of Alzheimer's disease (AD) dementia. Basal forebrain cholinergic system (BFCS) atrophy is reported to precede both entorhinal cortex atrophy and memory impairment in AD, challenging the traditional model of the temporal sequence of topographical pathology associated with AD. We studied the effect of one-year Donepezil treatment on the rate of BFCS atrophy in prodromal AD patients using a double-blind, randomized, placebo-controlled trial of Donepezil (10 mg/day). Reduced annual BFCS rates of atrophy were found in the Donepezil group compared to the Placebo treated arm. Secondary analyses on BFCS subregions demonstrated the largest treatment effects in the Nucleus Basalis of Meynert (NbM) and the medial septum/diagonal band (Ch1/2). Donepezil administered at a prodromal stage of AD seems to substantially reduce the rate of atrophy of the BFCS nuclei with highest concentration of cholinergic neurons projecting to the cortex (NbM), hippocampus and entorhinal cortex (Ch1/2).

Published
2017

14. Cerebral metastases as first symptom of bronchogenic carcinoma: a prospective study of 37 cases

Author

Trillet, Veronique, Catajar, Jean-Francois, Croisile, Bernard, Turjman, Francis, Aimard, Gilbert, Bourrat, Charles, Bret, Philippe, Carrie, Christian, Chassard, Jean-Louis, Chauvin, Franck, Confavreux, Christian, Cordier, Jean-Francois, Deruty, Robert, Duquesnel, Jean, Fischer, Georges, Gamondes, Jean-Paul, Gerard, Jean-Pierre, Goutelle, Alain, Lapras, Claude, and Loire, Robert

Subjects
Metastasis -- Cases, Brain, Lung cancer -- Diagnosis, Health
Abstract

In some forms of cancer, the disease may begin to metastasize, or spread through the body, before the primary cancer begins to cause any symptoms. Lung cancer is one such cancer; indeed, lung cancer is usually quite advanced by the time chest symptoms appear, so very often the first symptoms of the disease arise from other organs. One of the other organs of the body which is preferentially colonized by metastatic lung cancer cells is the brain. Thirty-seven cases are reviewed in which the symptoms of a brain tumor were the presenting symptoms for which the patient sought medical attention; they were only subsequently diagnosed with lung cancer. Of the 37 cases, only two occurred in non-smokers. Headache was one of the more common symptoms for which the patients sought medical attention; other symptoms included behavioral disturbances, loss of vision, and seizures. In all patients, abnormalities were visible on computed tomography (CT). In 34 of the 37 cases, abnormalities could be observed on chest X-rays. Of the three patients with normal X-rays at the time of initial presentation, one had signs of cancer visible on chest CT and the remaining two developed signs of lung cancer at six and nine months after the initial presentation. Eleven patients were found to have lung cancer of the non-small-cell type while the remainder had small cell lung cancer. At the time of diagnosis, there was evidence that the cancer had spread to other organs besides the brain in 11 patients. These other organs included the liver, adrenal glands, bone, spleen, skin, and bone marrow. The brain metastases were surgically removed in 20 patients, and in only 15 was the removal considered to be complete. The primary tumors in the lungs were variously treated with surgery, chemotherapy, and radiation according to the details of the individual case. Only one patient has survived for an extended period of time; this patient remains alive 10.5 years after the initial diagnosis. In general, the occurrence of metastatic disease in the brain is an indicator of poor prognosis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

15. A cognitive-based model of tool use in normal aging

Author

Lesourd, Mathieu, Baumard, Josselin, Jarry, Christophe, Etcharry-Bouyx, Frédérique, Belliard, Serge, Moreaud, Olivier, Croisile, Bernard, Chauviré, Valérie, Granjon, Marine, Le Gall, Didier, Osiurak, François, Laboratoire d'Etude des Mécanismes Cognitifs (EMC), Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), Service de neurologie [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Pôle Psychiatrie et Neurologie [Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Hopital Neurologique , Bron, Département de Neurologie, Hopital Neurologique, Bron-Hopital Neurologique, Bron, Centre d'étude et de recherche sur les risques et les vulnérabilités (CERREV), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Institut Universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.), and Université Lumière - Lyon 2 (UL2)

Subjects
Male, Descriptive knowledge, Aging, Experimental and Cognitive Psychology, Models, Psychological, Semantics, 050105 experimental psychology, Field (computer science), Mechanical knowledge, Developmental psychology, Task (project management), 03 medical and health sciences, 0302 clinical medicine, Cognition, Semantic memory, Humans, 0501 psychology and cognitive sciences, Psychological testing, Semantic knowledge, Motor skill, Problem Solving, Aged, Aged, 80 and over, Psychological Tests, 05 social sciences, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Middle Aged, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Apraxia, Motor Skills, Female, Tool use, Geriatrics and Gerontology, Psychology, 030217 neurology & neurosurgery, Cognitive psychology
Abstract

International audience; While several cognitive domains have been widely investigated in the field of aging, the age-related effects on tool use are still an open issue and hardly any studies on tool use and aging is available. A significant body of literature has indicated that tool use skills might be supported by at least two different types of knowledge, namely, mechanical knowledge and semantic knowledge. However, neither the contribution of these kinds of knowledge to familiar tool use, nor the effects of aging on mechanical and semantic knowledge have been explored in normal aging. The aim of the present study was to fill this gap. To do so, 98 healthy elderly adults were presented with three tasks: a classical, familiar tool use task, a novel tool use task assessing mechanical knowledge, and a picture matching task assessing semantic knowledge. The results showed that aging has a negative impact on tool use tasks and on knowledge supporting tool use skills. We also found that aging did not impact mechanical and semantic knowledge in the same way, confirming the distinct nature of those forms of knowledge. Finally, our results stressed that mechanical and semantic knowledge are both involved in the ability to use familiar tools.

Published
2016

16. Troubles d'utilisation des objets dans les pathologies neurodégénératives : Rôles de la mémoire sémantique et du raisonnement technique

Author

Baumard, Josselin, Lesourd, Mathieu, Jarry, Christophe, Merck, Catherine, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Belliard, Serge, Moreaud, Olivier, Croisile, Bernard, Osiurak, François, Le Gall, Didier, Baumard, Josselin, Maladie d'Alzheimer et Maladies Apparentées - Démences et utilisation d'outils - - DUO2011 - ANR-11-MALZ-0006 - MALZ - VALID, Construction, Fonction Cognitive et Réhabilitation du Cerveau - - CORTEX2011 - ANR-11-LABX-0042 - LABX - VALID, Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), Laboratoire d'Etude des Mécanismes Cognitifs (EMC), Université Lumière - Lyon 2 (UL2), Hôpital Neurologique Pierre Wertheimer, Service de Neurologie, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CHU Pontchaillou [Rennes], Département de Neurologie, CHU Angers, France, Neuropsychologie cognitive et neuroanatomie fonctionnelles de la mémoire humaine, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Mémoire de Ressources et de Recherche [Grenoble] (CMRR), Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratoire de Psychologie et NeuroCognition (LPNC ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Institut Universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), ANR-11-MALZ-0006,DUO,Démences et utilisation d'outils(2011), ANR-11-LABX-0042,CORTEX,Construction, Fonction Cognitive et Réhabilitation du Cerveau(2011), Service de Neurologie, CHU Pontchaillou, Rennes, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Caen Normandie (UNICAEN), and Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
semantic dementia, [SCCO.NEUR]Cognitive science/Neuroscience, mechanical problem-solving, [SCCO.PSYC] Cognitive science/Psychology, [SCCO.NEUR] Cognitive science/Neuroscience, [SCCO.PSYC]Cognitive science/Psychology, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, apraxia, Alzheimer's disease, corticobasal degeneration, [SHS.ANTHRO-BIO] Humanities and Social Sciences/Biological anthropology
Abstract

International audience; In the field of apraxia, it has been suggested that the ability to use tools and objects in daily life depends not only on semantic knowledge about tool function and context of use but also on technical reasoning about mechanical properties of tools and objects. The aim of the present work was to assess tool use abilities regarding these hypotheses in patients with neurodegenerative diseases and reduced autonomy. Performance of patients with Alzheimer’s disease (n = 31), semantic dementia (n = 16) and corticobasal syndrome (n = 7) was compared to that of healthy control participants (n = 31) in familiar tool use tasks, functional/contextual associations and mechanical problem solving. A conversion method was applied to data in order to avoid ceiling effects. Tool use disorders were found in all patient groups but the underlying reasons were different. Patients with semantic dementia had difficulties in imagining and selecting familiar tools due to the semantic loss but they performed in normal range in mechanical problem solving tasks. Interestingly, they performed better with only one tool and its corresponding object, which is interpreted as a partial compensation of semantic loss by spared technical reasoning. Patients with corticobasal syndrome exhibited the reverse pattern, that is, mechanical problem solving deficits without semantic loss. However, additional qualitative research is needed to disentangle the relative contributions of motor and technical reasoning deficits to this pattern. Both of these profiles were found in patients with Alzheimer’s disease. For all that, these patients did not commit the same errors as stroke patients with left brain-damage documented in previous works. Several hypotheses are proposed to account for the specificity of tool use disorders in neurodegenerative diseases, and recommendations are provided to caregivers.

Published
2016

17. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Author

Bellenguez, Céline, primary, Charbonnier, Camille, additional, Grenier-Boley, Benjamin, additional, Quenez, Olivier, additional, Le Guennec, Kilan, additional, Nicolas, Gaël, additional, Chauhan, Ganesh, additional, Wallon, David, additional, Rousseau, Stéphane, additional, Richard, Anne Claire, additional, Boland, Anne, additional, Bourque, Guillaume, additional, Munter, Hans Markus, additional, Olaso, Robert, additional, Meyer, Vincent, additional, Rollin-Sillaire, Adeline, additional, Pasquier, Florence, additional, Letenneur, Luc, additional, Redon, Richard, additional, Dartigues, Jean-François, additional, Tzourio, Christophe, additional, Frebourg, Thierry, additional, Lathrop, Mark, additional, Deleuze, Jean-François, additional, Hannequin, Didier, additional, Genin, Emmanuelle, additional, Amouyel, Philippe, additional, Debette, Stéphanie, additional, Lambert, Jean-Charles, additional, Campion, Dominique, additional, Martinaud, Olivier, additional, Zarea, Aline, additional, Bombois, Stéphanie, additional, Mackowiak, Marie-Anne, additional, Deramecourt, Vincent, additional, Michon, Agnès, additional, Le Ber, Isabelle, additional, Dubois, Bruno, additional, Godefroy, Olivier, additional, Etcharry-Bouyx, Frédérique, additional, Chauviré, Valérie, additional, Chamard, Ludivine, additional, Berger, Eric, additional, Magnin, Eloi, additional, Dartigues, Jean-Francois, additional, Auriacombe, Sophie, additional, Tison, François, additional, Sayette, Vincent de la, additional, Castan, Dominique, additional, Dionet, Elsa, additional, Sellal, Francois, additional, Rouaud, Olivier, additional, Thauvin, Christel, additional, Moreaud, Olivier, additional, Sauvée, Mathilde, additional, Formaglio, Maïté, additional, Mollion, Hélène, additional, Roullet-Solignac, Isabelle, additional, Vighetto, Alain, additional, Croisile, Bernard, additional, Didic, Mira, additional, Félician, Olivier, additional, Koric, Lejla, additional, Ceccaldi, Mathieu, additional, Gabelle, Audrey, additional, Marelli, Cecilia, additional, Labauge, Pierre, additional, Jonveaux, Thérèse, additional, Vercelletto, Martine, additional, Boutoleau-Bretonnière, Claire, additional, Castelnovo, Giovanni, additional, Paquet, Claire, additional, Dumurgier, Julien, additional, Hugon, Jacques, additional, De Boisgueheneuc, Foucauld, additional, Belliard, Serge, additional, Bakchine, Serge, additional, Sarazin, Marie, additional, Barrellon, Marie-Odile, additional, Laurent, Bernard, additional, Blanc, Frédéric, additional, Pariente, Jérémie, additional, and Jurici, Snejana, additional

Published
2017
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18. Rethinking the Cognitive Mechanisms Underlying Pantomime of Tool Use: Evidence from Alzheimer’s Disease and Semantic Dementia

Author

Lesourd, Mathieu, primary, Baumard, Josselin, additional, Jarry, Christophe, additional, Etcharry-Bouyx, Frédérique, additional, Belliard, Serge, additional, Moreaud, Olivier, additional, Croisile, Bernard, additional, Chauviré, Valérie, additional, Granjon, Marine, additional, Le Gall, Didier, additional, and Osiurak, François, additional

Published
2017
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21. Apraxie et maladie d’Alzheimer : revue et perspectives

Author

Lesourd, Mathieu, Le Gall, Didier, Baumard, Josselin, Croisile, Bernard, Jarry, Christophe, Osiurak, François, Laboratoire d'Etude des Mécanismes Cognitifs (EMC), Université Lumière - Lyon 2 (UL2), Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), and Université de Nantes (UN)-Université de Nantes (UN)

Subjects
gestes intransitifs, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.PSYC]Cognitive science/Psychology, gestes transitifs, Maladie d’Alzheimer, apraxie
Abstract

International audience; Alzheimer’s disease is characterized by the progressive impairment of cognitive functions. Whereas the study of amnesia, aphasia, agnosia and dysexecutive impairments to a lesser extent has been well documented, apraxia has received little attention [1]. The aim of this review is to fill this gap by presenting an overview of the praxis impairment, which typically appears in the course of the disease. This review focuses on transitive gestures (i.e., tool use tasks) and intransitive gestures (i.e., symbolic and meaningless). On the basis of these results, we propose interpretations as to the nature of the underlying mechanisms impaired by the disease. Finally, we provide some answers to help clinicians to better understand and assess the apraxic disorders in Alzheimer’s disease.; La maladie d’Alzheimer est caractérisée par un déficit progressif des fonctions cognitives. Alors que l’amnésie, l’aphasie, l’agnosie et le dysfonctionnement exécutif ont fait l’objet de nombreuses recherches, l’intérêt porté à l’apraxie est resté faible [1]. Nous avons réalisé une revue de la littérature afin de faire la synthèse des troubles praxiques présents dans la maladie d’Alzheimer, en se focalisant sur les gestes transitifs (i.e., situation d’utilisation d’outils) et intransitifs (i.e., gestes symboliques et sans signification). Sur la base des résultats observés, nous avons proposé des interprétations quant à la nature des mécanismes déficitaires. Enfin, il nous ait apparu important d’apporter des réponses aux cliniciens qui sont confrontés, dans leur pratique quotidienne, à l’évaluation des praxies dans la maladie d’Alzheimer.

Published
2013

22. 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

23. 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

24. 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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26. Exploratory Investigation of a Customized cognitive remediation program for individuals living with schizophrenia

Author

Vianin, Pascal, Deppen, Patricia, Croisile, Bernard, Tarpin-Bernard, Franck, Sarrazin-Bruchez, P., Dukes, R., Grillon, M., Ingénierie de l’Interaction Homme-Machine (IIHM), Laboratoire d'Informatique de Grenoble (LIG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF), and Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[INFO.INFO-HC]Computer Science [cs]/Human-Computer Interaction [cs.HC], ComputingMilieux_MISCELLANEOUS
Abstract

International audience; no abstract

Published
2010

28. Amélioration des performances cognitives chez 85 abonnés assidus d'un site Internet d'entraînement cognitif

Author

Tarpin-Bernard, Franck, Croisile, Bernard, Bélier, Sandrine, Allain, Gaël, Noir, Michel, Tarpin-Bernard, Franck, Laboratoire d'Informatique pour l'Entreprise et les Systèmes de Production (LIESP), Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université Lumière - Lyon 2 (UL2)-École Centrale de Lyon (ECL), and Université de Lyon

Subjects
[SCCO.COMP] Cognitive science/Computer science, [SCCO.PSYC]Cognitive science/Psychology, [SCCO.PSYC] Cognitive science/Psychology, [SCCO.COMP]Cognitive science/Computer science, [INFO.INFO-HC]Computer Science [cs]/Human-Computer Interaction [cs.HC], [INFO.INFO-HC] Computer Science [cs]/Human-Computer Interaction [cs.HC], ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2007

29. O1-09-01: IMPACT OF CEREBROSPINAL FLUID BIOMARKERS OF ALZHEIMER'S DISEASE IN CLINICAL PRACTICE: A MULTICENTRIC STUDY

Author

Mouton-Liger, François, primary, Wallon, David, additional, Troussière, Anne-Cécile, additional, Dumurgier, Julien, additional, Magnin, Eloi, additional, de La Sayette, Vincent, additional, Duron, Emmanuelle, additional, Gabelle, Audrey, additional, Philippi, Nathalie, additional, Croisile, Bernard, additional, Robert, Philippe H., additional, Pasquier, Florence, additional, Hannequin, Didier, additional, Hugon, Jacques, additional, and Paquet, Claire, additional

Published
2014
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30. Increased Cerebrospinal Fluid Tau Levels in Logopenic Variant of Alzheimer's Disease

Author

Magnin, Eloi, primary, Paquet, Claire, additional, Formaglio, Maité, additional, Croisile, Bernard, additional, Chamard, Ludivine, additional, Miguet-Alfonsi, Carole, additional, Tio, Gregory, additional, Dumurgier, Julien, additional, Roullet-Solignac, Isabelle, additional, Sauvée, Mathilde, additional, Thomas-Antérion, Catherine, additional, Vighetto, Alain, additional, Hugon, Jacques, additional, and Vandel, Pierre, additional

Published
2014
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32. Impact of cerebro-spinal fluid biomarkers of Alzheimer’s disease in clinical practice: a multicentric study

Author

Mouton-Liger, François, primary, Wallon, David, additional, Troussière, Anne-Cécile, additional, Yatimi, Rachida, additional, Dumurgier, Julien, additional, Magnin, Eloi, additional, de la Sayette, Vincent, additional, Duron, Emannuelle, additional, Philippi, Nathalie, additional, Beaufils, Emilie, additional, Gabelle, Audrey, additional, Croisile, Bernard, additional, Robert, Philippe, additional, Pasquier, Florence, additional, Hannequin, Didier, additional, Hugon, Jacques, additional, and Paquet, Claire, additional

Published
2013
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33. Seizures in dominantly inherited Alzheimer disease.

Author

Zarea, Aline, Charbonnier, Camille, Rovelet-Lecrux, Anne, Nicolas, Gaël, Rousseau, Stéphane, Borden, Alaina, Pariente, Jeremie, Le Ber, Isabelle, Pasquier, Florence, Formaglio, Maite, Martinaud, Olivier, Rollin-Sillaire, Adeline, Sarazin, Marie, Croisile, Bernard, Boutoleau-Bretonnière, Claire, Ceccaldi, Mathieu, Gabelle, Audrey, Chamard, Ludivine, Blanc, Frédéric, and Sellal, François

Published
2016
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34. P4-097: Alzheimer's disease with age of onset less than 50 years: Genetic determinisms in sporadic cases

Author

Wallon, David, primary, Rovelet-Lecrux, Anne, additional, Rousseau, Stephane, additional, Martinaud, Olivier, additional, Pottier, Cyril, additional, Rollin, Adeline, additional, Pasquier, Florence, additional, Le Ber, Isabelle, additional, Dubois, Bruno, additional, Pariente, Jeremie, additional, Paquet, Claire, additional, Croisile, Bernard, additional, Thomas-Anterion, Catherine, additional, Campion, Dominique, additional, and Hannequin, Didier, additional

Published
2012
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36. Decreased sAβPPβ, Aβ38, and Aβ40 Cerebrospinal Fluid Levels in Frontotemporal Dementia

Author

Gabelle, Audrey, primary, Roche, Stéphane, additional, Gény, Christian, additional, Bennys, Karim, additional, Labauge, Pierre, additional, Tholance, Yannick, additional, Quadrio, Isabelle, additional, Tiers, Laurent, additional, Gor, Baptiste, additional, Boulanghien, Justine, additional, Chaulet, Chloé, additional, Vighetto, Alain, additional, Croisile, Bernard, additional, Krolak-Salmon, Pierre, additional, Perret-Liaudet, Armand, additional, Touchon, Jacques, additional, and Lehmann, Sylvain, additional

Published
2011
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37. P2‐087: Interest of CSF p‐Tau 181 and Amyloid‐beta 1‐38 for the diagnosis of frontotemporal dementia

Author

Gabelle, Audrey, primary, Roche, Stéphane, additional, Gény, Christian, additional, Bennys, Karim, additional, Labauge, Pierre, additional, Tholance, Yannick, additional, Quadrio, Isabelle, additional, Tiers, Laurent, additional, Gor, Baptiste, additional, Chaulet, Chloé, additional, Vighetto, Alain, additional, Croisile, Bernard, additional, Krolak‐Salmon, Pierre, additional, Perret‐Liaudet, Armand, additional, Touchon, Jacques, additional, and Lehmann, Sylvain, additional

Published
2011
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38. P4-303: Donepezil decreases rate of hippocampal atrophy in patients with prodromal Alzheimer's disease

Author

Dubois, Bruno, primary, Chupin, Marie, additional, Croisile, Bernard, additional, Louis-Tisserand, Guy, additional, Touchon, Jacques, additional, Bonafé, Alain, additional, Ousset, Pierre-Jean, additional, Ait-Ameur, Amir, additional, Rouaud, Olivier, additional, Ricolfi, Frederic, additional, Vighetto, Alain, additional, and Pasquier, Florence, additional

Published
2011
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40. Correlations between soluble α/β forms of amyloid precursor protein and Aβ38, 40, and 42 in human cerebrospinal fluid

Author

Gabelle, Audrey, primary, Roche, Stéphane, additional, Gény, Christian, additional, Bennys, Karim, additional, Labauge, Pierre, additional, Tholance, Yannick, additional, Quadrio, Isabelle, additional, Tiers, Laurent, additional, Gor, Baptiste, additional, Chaulet, Chloé, additional, Vighetto, Alain, additional, Croisile, Bernard, additional, Krolak-Salmon, Pierre, additional, Touchon, Jacques, additional, Perret-Liaudet, Armand, additional, and Lehmann, Sylvain, additional

Published
2010
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43. Donepezil decreases annual rate of hippocampal atrophy in suspected prodromal Alzheimer's disease.

Author

Dubois, Bruno, Chupin, Marie, Hampel, Harald, Lista, Simone, Cavedo, Enrica, Croisile, Bernard, Louis Tisserand, Guy, Touchon, Jacques, Bonafe, Alain, Ousset, Pierre Jean, Ait Ameur, Amir, Rouaud, Olivier, Ricolfi, Fréderic, Vighetto, Alain, Pasquier, Florence, Delmaire, Christine, Ceccaldi, Mathieu, Girard, Nadine, Dufouil, Carole, and Lehericy, Stéphane

Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2015
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48. 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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50. Can ICT improve the quality of life of elderly adults living in residential home care units? From actual impacts to hidden artefacts.

Author

Bobillier Chaumon, Marc-Eric, Michel, Christine, Tarpin Bernard, Franck, and Croisile, Bernard

Subjects
ANALYSIS of variance, GAMES, INFORMATION technology, INTERVIEWING, RESEARCH methodology, PSYCHOLOGICAL tests, QUALITY of life, SELF-perception, SOCIAL skills, EMAIL, THEMATIC analysis, RESIDENTIAL care
Abstract

In a context of progressive loss of intellectual and interactional capacities for the elderly, the goal of this article is to examine to what extent a new technological environment can improve their quality of life. In this study, we examine the very elderly (mean age 87) who have experienced a loss in functional capacities and are dependent on managed care such as residential home care units. Using qualitative methods amongst a group of 17 residents (semi-structured interviews and longitudinal observations), we examine whether new social practices form and whether subjects feel more socially recognised. Our study shows that information and communications technologies may, to some extent, play an instrumental role in interconnectedness and social stimulation, and can also be seen as a ‘boundary object’ that communicates between the residents’ world (who are rather isolated) and their families’ world (including grandchildren). [ABSTRACT FROM PUBLISHER]

Published
2014
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