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1. MEM&SO protocol: understanding the determinants of social learning in neurodegenerative diseases

Author

Pauline Saliou, Julien Chavant, Serge Belliard, Catherine Merck, Vincent de La Sayette, David Wallon, Olivier Martinaud, Francis Eustache, and Mickaël Laisney

Subjects
Alzheimer disease, Aphasia, primary progressive, Social learning, Personality, Social interaction., Psychology, BF1-990
Abstract

Abstract Background People with neurodegenerative diseases may have difficulty learning new information, owing to their cognitive impairments. Teaching them techniques for learning in social contexts could alleviate this difficulty. The present study will examine the performances of patients with Alzheimer’s disease and patients with the semantic variant of primary progressive aphasia on a memory test administered in three social contexts. The protocol will make it possible to identify determinants of social interactions, social abilities, cognition, and personality that can explain the potentially beneficial effect of social context on learning in these patients. Methods Thirty dyads (patient with primary memory impairment who meets criteria for Alzheimer’s disease paired with caregiver), 16 dyads (patient meeting criteria for semantic variant of primary progressive aphasia paired with caregiver), and 46 dyads (healthy controls with no cognitive complaints) will be recruited. A nonverbal memory test (social memory task) will be administered to each dyad in three different social contexts (presence-only, observation, collaboration). Patients and healthy controls will also undergo a neuropsychological assessment to measure social (interactions and abilities), cognitive and personality aspects. Patients will be compared with controls on differential social scores calculated between the presence-only and collaboration contexts, and between the presence-only and observation contexts. A multiple comparative case study will be conducted to identify social, cognitive and personality variables that potentially explain the differential scores in the collaboration and observation contexts. Discussion For the first time, memory will be assessed in patients with Alzheimer’s disease and patients with the semantic variant of primary progressive aphasia in three different contexts (presence-only, observation, collaboration). The multiple comparative case study will make it possible to identify the determinants of memory performance in the social context, in order to create the most beneficial learning context for individual patients, according to their profile. Trial registration This study was approved by the Ile de France XI institutional review board (2022-A00198-35), and registered on ClinicalTrials.gov (no. NCT05800028), on April 27, 2023.

Published
2024
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2. Structural, Microstructural, and Metabolic Alterations in Primary Progressive Aphasia Variants

Author

Alexandre Routier, Marie-Odile Habert, Anne Bertrand, Aurélie Kas, Martina Sundqvist, Justine Mertz, Pierre-Maxime David, Hugo Bertin, Serge Belliard, Florence Pasquier, Karim Bennys, Olivier Martinaud, Frédérique Etcharry-Bouyx, Olivier Moreaud, Olivier Godefroy, Jérémie Pariente, Michèle Puel, Philippe Couratier, Claire Boutoleau-Bretonnière, Bernard Laurent, Raphaëlla Migliaccio, Bruno Dubois, Olivier Colliot, and Marc Teichmann

Subjects
primary progressive aphasias, cortical thickness, cortical metabolism, tracts, MRI, PET, Neurology. Diseases of the nervous system, RC346-429
Abstract

Neuroimaging studies have described the brain alterations in primary progressive aphasia (PPA) variants (semantic, logopenic, nonfluent/agrammatic). However, few studies combined T1, FDG-PET, and diffusion MRI techniques to study atrophy, hypometabolism, and tract alterations across the three PPA main variants. We therefore explored a large early-stage cohort of semantic, logopenic and nonfluent/agrammatic variants (N = 86) and of 23 matched healthy controls with anatomical MRI (cortical thickness), FDG PET (metabolism) and diffusion MRI (white matter tracts analyses), aiming at identifying cortical and sub-cortical brain alterations, and confronting these alterations across imaging modalities and aphasia variants. In the semantic variant, there was cortical thinning and hypometabolism in anterior temporal cortices, with left-hemisphere predominance, extending toward posterior temporal regions, and affecting tracts projecting to the anterior temporal lobes (inferior longitudinal fasciculus, uncinate fasciculus) and tracts projecting to or running nearby posterior temporal cortices: (superior longitudinal fasciculus, inferior frontal-occipital fasciculus). In the logopenic variant metabolic alterations were more extensive than atrophy affecting mainly the left temporal-parietal junction and extending toward more anterior temporal cortices. Metabolic and tract data were coherent given the alterations of the left superior and inferior longitudinal fasciculus and the left inferior frontal-occipital fasciculus. In the nonfluent/agrammatic variant cortical thinning and hypometabolism were located in the left frontal cortex but Broca's area was only affected on metabolic measures. Metabolic and tract alterations were coherent as reflected by damage to the left uncinate fasciculus connecting with Broca's area. Our findings provide a full-blown statistically robust picture of brain alterations in early-stage variants of primary progressive aphasia which has implications for diagnosis, classification and future therapeutic strategies. They demonstrate that in logopenic and semantic variants patterns of brain damage display a non-negligible overlap in temporal regions whereas they are substantially distinct in the nonfluent/agrammatic variant (frontal regions). These results also indicate that frontal networks (combinatorial syntax/phonology) and temporal networks (lexical/semantic representations) constitute distinct anatomo-functional entities with differential vulnerability to degenerative processes in aphasia variants. Finally, the identification of the specific damage patterns could open an avenue for trans-cranial stimulation approaches by indicating the appropriate target-entry into the damaged language system.

Published
2018
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4. Episodic future thinking in semantic dementia: a cognitive and FMRI study.

Author

Armelle Viard, Pascale Piolino, Serge Belliard, Vincent de La Sayette, Béatrice Desgranges, and Francis Eustache

Subjects
Medicine, Science
Abstract

Semantic dementia (SD) is characterized by gradual loss of semantic memory. While episodic autobiographical memory seems relatively preserved, behavioral studies suggest that episodic future thinking is impaired. We used fMRI to measure brain activity in four SD patients (JPL, EP, LL, EG) while they envisioned future events and remembered personal past events. Twelve healthy elders served as controls. Episodic quality, emotion, mental imagery and level of consciousness (via remember/know judgements) were checked at debriefing. We analyzed the future compared to the past for each patient. All patients presented lateral temporal atrophy, but varied in terms of frontal and anterior hippocampal atrophy. Patient JPL presented atrophy in bilateral superior medial frontal gyri and left anterior hippocampus and was unable to engage in episodic future thinking, despite hyperactivations in frontal and occipital regions. Patient EP presented no atrophy in the anterior hippocampus, but atrophy in bilateral superior medial frontal gyrus and had difficulties to engage in episodic future thinking. Patient LL presented atrophy in left anterior hippocampus, but hyperactivated its right counterpart for future compared to past thinking, permitting her to project efficiently in the future in an episodic way. Patient EG presented no atrophy in the superior medial frontal gyri or anterior hippocampi and was able to engage in episodic future thinking. Altogether, patients' future projections differed depending on the severity and localization of their atrophy. The functional integrity of bilateral superior medial frontal gyri and anterior hippocampus appear crucial for episodic future thinking: atrophy of both structures strongly impairs future projection, while integrity of these structures or hyperactivation of residual tissue normalizes episodic future projection.

Published
2014
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6. Nonspecific Effects of Normal Aging on Taxonomic and Thematic Semantic Processing

Author

Catherine Merck, Audrey Noël, Eric Jamet, Maxime Robert, Anne Salmon, Serge Belliard, Solène Kalénine, Neuropsychologie et imagerie de la mémoire humaine (NIMH), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), CHU Pontchaillou [Rennes], Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, LillOA, Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Lille, CNRS, CHU Lille, Neuropsychologie et imagerie de la mémoire humaine [NIMH], Laboratoire de Psychologie : Cognition, Comportement, Communication [LP3C - EA1285], and Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]

Subjects
[SCCO]Cognitive science, Aging, Arts and Humanities (miscellaneous), [SCCO] Cognitive science, Geriatrics and Gerontology, General Psychology
Abstract

International audience; ObjectiveThis study aimed to assess the effect of normal aging on the processing of taxonomic and thematic semantic relations.MethodWe used the Visual-World-Paradigm coupled with eye-movement recording. We compared performance of healthy younger and older adults on a word-to-picture matching task in which participants had to identify each target among semantically related (taxonomic or thematic) and unrelated distractors.ResultsYounger and older participants exhibited similar patterns of gaze fixations in the two semantic conditions. The effect of aging took the form of an overall reduction in sensitivity to semantic competitors, with no difference between the taxonomic and thematic conditions. Moreover, comparison of the proportions of fixations between the younger and older participants indicated that targets were identified equally quickly in both age groups. This was not the case when mouse-click reaction times were analyzed.ConclusionsFindings argue in favor of nonspecific effects of normal aging on semantic processing that similarly affect taxonomic and thematic processing. There are important clinical implications, as pathological aging has been repeatedly shown to selectively affect either taxonomic or thematic relations. Measuring eye-movements in a semantic task is also an interesting approach in the elderly, as these seem to be less impacted by aging than other motor responses.

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

Author

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

Subjects
medicine.medical_specialty, C9orf72 Protein, Apraxias, Cognitive Neuroscience, Inferior frontal gyrus, Experimental and Cognitive Psychology, Frontotemporal lobar degeneration, respiratory system, Audiology, medicine.disease, Magnetic Resonance Imaging, Apraxia, Primary progressive aphasia, Aphasia, Primary Progressive, Neuropsychology and Physiological Psychology, Atrophy, C9orf72, medicine, Humans, Speech, Orbitofrontal cortex, Psychology, Language, Frontotemporal dementia
Abstract

C9orf72 repeat 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 C9orf72 expansions (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. This study depicts the spectrum of C9orf72–related aphasic phenotypes, and illustrates their linguistic presentation. The non-fluent/agrammatic variant was the most frequent phenotype in our series (9/16 patients, 56%), with apraxia of speech being the main defining feature. Left frontal lobe atrophy was present in these subjects, peaking in inferior frontal gyrus. Three patients (19%) showed the semantic variant, with progression of atrophy in temporo-polar regions, later involving orbitofrontal cortex. Anterior temporal lobe dysfunction was also particularly relevant in two patients (12.5%) with mixed forms of PPA. Lastly, two patients (12.5%) had unclassifiable PPA with predominating word-finding difficulties. No PPA-C9orf72 patients in our series fulfilled the criteria of the logopenic variant. Importantly, this study underlines the role of C9orf72 mutation in the disruption of the most anterior parts of the language network, including prefrontal and temporo-polar areas. It provides guidelines for C9orf72 testing in PPA patients, with important clinical impact as gene-specific therapies are upcoming.

Published
2021
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8. Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Author

Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël, Collaborators Daniela Andriuta, Pierre, Anthony, Sophie, Auriacombe, Anna-Chloé, Balageas, Guillaume, Ballan, Mélanie, Barbay, Emilie, Beaufils, Yannick, Béjot, Serge, Belliard, Marie, Benaiteau, Karim, Bennys, Frédéric, Blanc, Stéphanie, Bombois, Claire Boutoleau Bretonnière, Pierre, Branger, Jasmine, Carlier, Leslie, Cartz-Piver, Pascaline, Cassagnaud, Giovanni, Castelnovo, Christine, Champion, Annabelle, Chaussenot, Mathieu, Ceccaldi, Valérie, Chauviré, Yaohua, Chen, Julien, Cogez, Emmanuel, Cognat, Fabienne, Contegal-Callier, Lea, Corneille, Philippe, Couratier, Hélène, Courtemanche, Benjamin, Cretin, Charlotte, Crinquette, Bernard, Croisille, Benjamin, Dauriat, Sophie, Dautricourt, Vincent de la Sayette, Astrid De Liège, Marie De Verdal, Didier, Deffond, Benoit, Delpont, Florence, Demurger, Vincent, Deramecourt, Céline, Derollez, Mira, Didic, Giulia, Diemert, Elsa, Dionet, Philippe, Diraison, Aude, Doan, Martine Doco Fenzy, Boris, Dufournet, Julien, Dumurgier, Hélène, Durand, Anas, Dutray, Frédérique, Etcharry-Bouyx, Maté, Formaglio, Audrey, Gabelle, Anne, Gainche-Salmon, Jean-Claude, Getenet, Emmanuelle, Ginglinger, Olivier, Godefroy, Mathilde, Graber, Chloé, Gregoire, Stephan, Grimaldi, Julien, Gueniat, Claude, Gueriot, Sophie, Haffen, Lorraine, Hamelin, Didier, Hannequin, Cezara, Hanta, Clémence, Hardy, Geoffroy, Hautecloque, Camille, Heitz, Claire, Hourregue, Thérèse, Jonveaux, Snejana, Jurici, Catia, Khoumri, Lejla, Koric, Pierre, Krolak-Salmon, Pierre, Labauge, Morgane, Lacour, Julien, Lagarde, Hélène-Marie, Lanoiselée, Brice, Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie, Leblanc, Thibaud, Lebouvier, Anas, Lippi, Marie-Anne, Mackowiak, Eloi, Magnin, Cecilia, Marelli, Olivier, Martinaud, Aurélien, Maureille, Emilie, Milongo-Rigal, Sophie, Mohr, Hélène, Mollion, Olivier, Moreaud, Alexandre, Morin, Gaël, Nicolas, Julia, Nivelle, Camille, Noiray, Elisabeth, Ollagnon-Roman, Claire, Paquet, Jérémie, Pariente, Florence, Pasquier, Alexandre, Perron, Nathalie, Philippi, Virginie, Pichon, Vincent, Planche, Céline, Poirsier, Marie, Rafiq, Pauline, Rod-Olivieri, Adeline, Rollin-Sillaire, Carole, Roué-Jagot, Dario, Saracino, Marie, Sarazin, Mathilde, Sauvée, François, Sellal, Lila Sirven Villaros, Christel, Thauvin, Camille, Tisserand, Christophe, Tomasino, Cédric, Turpinat, Laurène Van Damme, Olivier, Vercruysse, Alice, Voilly, Nathalie, Wagemann, David, Wallon, Aline, Zarea, Shahzad, Ahmad, Philippe, Amouyel, Claudine, Berr, Anne, Boland, Paola, Bossu, Femke, Bouwman, Jose, Bras, Dominique, Campion, Camille, Charbonnier, Jordi, Clarimon, Antonio, Daniele, Jean-François, Dartigues, Stéphanie, Debette, Jean-François, Deleuze, Nicola, Denning, Oriol, Dols-Icardo, Nick, C Fox, Daniela, Galimberti, Emmanuelle, Génin, Hans, Gille, Benjamin, Grenier-Boley, Detelina, Grozeva, Rita, Guerreiro, John, J Hardy, Clive, Holmes, Henne, Holstege, Marc, Hulsman, Holger, Hummerich, M Arfan Ikram, M Kamran Ikram, Iris, Jansen, Amit, Kawalia, Robert, Kraaij, Jean-Charles, Lambert, Marc, Lathrop, Afina, W Lemstra, Alberto, Lleo, Lauren, Luckcuck, Marcel M A, M Mannens, Rachel, Marshall, Carlo, Masullo, Simon, Mead, Mecocci, Patrizia, Alun, Meggy, Merel, O Mol, Kevin, Morgan, Benedetta, Nacmias, Penny, J Norsworthy, Pau, Pastor, Olivier, Quenez, Alfredo, Ramirez, Rachel, Raybould, Richard, Redon, Marcel J, T Reinders, Anne-Claire, Richard, Steffi, G Riedel-Heller, Fernando, Rivadeneira, Stéphane, Rousseau, Natalie, S Ryan, Salha, Saad, Pascual, Sanchez-Juan, Philip, Scheltens, Jonathan, M Schott, Davide, Seripa, Daoud, Sie, Rebecca, Sims, Erik, Sistermans, Sandro, Sorbi, Resie van Spaendonk, Gianfranco, Spalleta, Nicćolo, Tesi, Betty, Tijms, André, G Uitterlinden, Wiesje, M van der Flier, Sven, J van der Lee, Cornelia, M van Duijn, Jeroen G, J van Rooij, John, C van Swieten, Pieter, J de Visser, Michael, Wagner, and Julie, Williams

Subjects
Genotype, Membrane Transport Proteins, Penetrance, Lifetime risk, Pedigree, Expectation-maximization algorithm, Settore MED/26 - NEUROLOGIA, Apolipoproteins E, Missing genotypes, Alzheimer Disease, Case-Control Studies, SORL1, Alzheimer, Genetics, Humans, Molecular Medicine, Molecular Biology, LDL-Receptor Related Proteins, APOE, Genetics (clinical)
Abstract

Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive trials. However, relative rarity and co-occurrence with the main AD risk factor, APOE-ε4, make such estimations difficult. Methods We proposed to estimate the age-related penetrance of SORL1-LoF variants through a survival framework by estimating the conditional instantaneous risk combining (i) a baseline for non-carriers of SORL1-LoF variants, stratified by APOE-ε4, derived from the Rotterdam study (N = 12,255), and (ii) an age-dependent proportional hazard effect for SORL1-LoF variants estimated from 27 extended pedigrees (including 307 relatives ≥ 40 years old, 45 of them having genotyping information) recruited from the French reference center for young Alzheimer patients. We embedded this model into an expectation-maximization algorithm to accommodate for missing genotypes. To correct for ascertainment bias, proband phenotypes were omitted. Then, we assessed if our penetrance curves were concordant with age distributions of APOE-ε4-stratified SORL1-LoF variant carriers detected among sequencing data of 13,007 cases and 10,182 controls from European and American case-control study consortia. Results SORL1-LoF variants penetrance curves reached 100% (95% confidence interval [99–100%]) by age 70 among APOE-ε4ε4 carriers only, compared with 56% [40–72%] and 37% [26–51%] in ε4 heterozygous carriers and ε4 non-carriers, respectively. These estimates were fully consistent with observed age distributions of SORL1-LoF variant carriers in case-control study data. Conclusions We conclude that SORL1-LoF variants should be interpreted in light of APOE genotypes for future clinical applications.

Published
2022
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9. Building memories on prior knowledge: behavioral and fMRI evidence of impairment in early Alzheimer’s disease

Author

Pierre-Yves Jonin, Emmanuel J. Barbeau, Elise Bannier, Serge Belliard, Christian Barillot, Quentin Duché, Jean-Christophe Ferré, Isabelle Corouge, 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-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), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Empenn, Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], Département de Radiologie [CHU de Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Barbeau, Emmanuel, Centre de recherche cerveau et cognition (CERCO UMR5549), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Toulouse Mind & Brain Institut (TMBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Neuroimagerie: méthodes et applications (EMPENN), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAL, IMAGE ET LANGAGE (IRISA-D6), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Université de Rennes (UR), Bannier, Elise, Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-CentraleSupélec-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), and Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)

Subjects
Male, Aging, [SHS.PSY]Humanities and Social Sciences/Psychology, Disease, Audiology, Hippocampus, Task (project management), [SHS]Humanities and Social Sciences, Healthy Aging, Recognition memory, 0302 clinical medicine, Perirhinal cortex, Age of Onset, General Neuroscience, 05 social sciences, fMRI, Healthy subjects, Content-addressable memory, Impaired memory, Alzheimer's disease, Hippocampal region, Magnetic Resonance Imaging, Healthy Volunteers, Prior knowledge, Knowledge, medicine.anatomical_structure, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SHS] Humanities and Social Sciences, Psychology, medicine.medical_specialty, 050105 experimental psychology, Source memory, [SHS.PSY] Humanities and Social Sciences/Psychology, 03 medical and health sciences, Alzheimer Disease, Memory, Encoding (memory), medicine, Humans, 0501 psychology and cognitive sciences, In patient, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Aged, [SDV.IB] Life Sciences [q-bio]/Bioengineering, Behavior, Association Learning, Healthy elderly, Face, Neurology (clinical), Geriatrics and Gerontology, Neuroscience, Photic Stimulation, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Impaired memory is a hallmark of prodromal Alzheimer’s Disease (AD). Prior knowledge associated with the memoranda has proved to have a powerful effect on memory in healthy subjects. Yet, barely nothing is known about its effect in early AD. We used functional MRI to ask whether prior knowledge enhanced memory encoding in early AD and whether the nature of prior knowledge mattered. Early AD patients and healthy controls underwent a task-based fMRI experiment, being scanned while learning face-scene associations. Famous faces carried Pre-Experimental Knowledge (PEK) while unknown faces repeatedly familiarized prior to learning carried Experimental Knowledge (EK). As expected, PEK increased subsequent memory in healthy elderly. However, patients did not benefit from PEK. Partly non-overlapping brain networks supported PEK vs. EK encoding in healthy controls. Patients displayed impaired activation in a right subhippocampal region where activity predicted successful associative memory formation of PEK stimuli. These findings call for a thorough consideration of how prior knowledge impacts learning and suggest a possible underestimation of the extent of associative memory impairment in early AD.HighlightsLearning is impaired in prodromal AD, but we currently ignore whether prior knowledge available at encoding promotes learning in AD as it does in healthy controls.Patients with AD failed to benefit from pre-experimental prior knowledge (famous faces) by comparison with experimental knowledge (unknown but familiarized faces).fMRI responses at study revealed distinct networks underlying associative encoding for both pre-experimental and experimental knowledge.A subsequent memory effect found in control subjects for associations carrying pre-experimental knowledge in the right subhippocampal structures, including the perirhinal cortex, was absent in patients.Pre-experimental knowledge-based associative encoding relies on brain regions specifically targeted by early tau pathology.Using unfamiliar materials to probe memory in early AD might underestimate learning impairment.

Published
2021
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10. Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria

Author

Nicolas Menjot de Champfleur, Serge Lumbroso, Serge Belliard, Françoise Durand-Dubief, Odile Boespflug-Tanguy, Frédérique Etcharry-Bouyx, Xavier Ayrignac, Emmanuel Ellie, Imen Dorboz, Cecilia Marelli, Isabelle Le Ber, F. Mochel, Guillaume Mathey, B. Stankoff, Florence Portet, Pekes Codjia, Kevin Mouzat, Séverine Drunat, Giovanni Castelnovo, Pierre Labauge, and Clarisse Carra-Dalliere

Subjects
Adult, Pathology, medicine.medical_specialty, White matter, Leukoencephalopathy, Leukoencephalopathies, Receptors, Colony-Stimulating Factor, medicine, Humans, In patient, Exome sequencing, Axonal spheroids, medicine.diagnostic_test, business.industry, Leukodystrophy, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, White Matter, medicine.anatomical_structure, Neurology, Cohort, Mutation, Neurology (clinical), business, Neuroglia
Abstract

Background and purpose Diagnostic criteria for adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony-stimulating factor 1 receptor (CSF1R) mutation have recently been proposed. Our objective was to assess their accuracy in an independent multicenter cohort. Methods We evaluated the sensitivity and specificity of the diagnostic criteria for ALSP (including the "probable" and "possible" definitions) in a national cohort of 22 patients with CSF1R mutation, and 59 patients with an alternative diagnosis of adult onset inherited leukoencephalopathy. Results Overall, the sensitivity of the diagnostic criteria for ALSP was 82%, including nine of 22 patients diagnosed as probable and nine of 22 diagnosed as possible. Twenty of the 59 CSF1R mutation-negative leukoencephalopathies fulfilled the diagnostic criteria, leading to a specificity of 66%. Conclusions Diagnostic criteria for ALSP have an overall limited sensitivity along with a modest specificity. We suggest that in patients suspected of genetic leukoencephalopathy, a comprehensive magnetic resonance imaging pattern-based approach is warranted, together with white matter gene panel or whole exome sequencing.

Published
2021

11. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

Author

Barbier, Mathieu, Camuzat, Agnès, Hachimi, Khalid El, Guegan, Justine, Rinaldi, Daisy, Lattante, Serena, Houot, Marion, Sánchez-Valle, Raquel, Sabatelli, Mario, Antonell, Anna, Molina-Porcel, Laura, Clot, Fabienne, Couratier, Philippe, van der Ende, Emma, van der Zee, Julie, Manzoni, Claudia, Camu, William, Cazeneuve, Cécile, Sellal, François, Didic, Mira, Golfier, Véronique, Pasquier, Florence, Duyckaerts, Charles, Rossi, Giacomina, Bruni, Amalia C, Alvarez, Victoria, Gómez-Tortosa, Estrella, de Mendonça, Alexandre, Graff, Caroline, Masellis, Mario, Nacmias, Benedetta, Oumoussa, Badreddine Mohand, Jornea, Ludmila, Forlani, Sylvie, Van Deerlin, Viviana, Rohrer, Jonathan D, Gelpi, Ellen, Rademakers, Rosa, Van Swieten, John, Le Guern, Eric, Van Broeckhoven, Christine, Ferrari, Raffaele, Génin, Emmanuelle, Brice, Alexis, Ber, Le, Isabelle Alexis Brice, Sophie, Auriacombe, Serge, Belliard, Anne, Bertrand, Anne, Bissery, Fre ́ de, ́ ric Blanc, Marie-Paule, Boncoeur, Ste, ́ phanie Bombois, Claire Boutoleau-Bretonnie` re, Agne`, s Camuzat, Mathieu, Ceccaldi, Marie, Chupin, Philippe, Couratier, Olivier, Colliot, Vincent, Deramecourt, Mira, Didic, Bruno, Dubois, Charles, Duyckaerts, Fre ́ de, ́ rique Etcharry-Bouyx, Aure, ́ lie Guignebert-Funkiewiez, Maı ̈te, ́ Formaglio, ́ ronique Golfier, Ve, Marie-Odile, Habert, Didier, Hannequin, Lucette, Lacomblez, Julien, Lagarde, ́ raldine Lautrette, Ge, Isabelle Le Ber, Benjamin Le Toullec, Richard, Levy, Marie-Anne, Mackowiak, Bernard-Franc ̧ois Michel, Florence, Pasquier, Thibaud, Lebouvier, Carole Roue, ́ -Jagot, Christel Thauvin- Robinet, Catherine, Thomas-Anterion, Je ́ re, ́ mie Pariente, Franc ̧ois Salachas, Sabrina, Sayah, Franc ̧ois Sellal, Assi-Herve, ́ Oya, Daisy, Rinaldi, Adeline, Rollin-Sillaire, Martine, Vercelletto, David, Wallon, Armelle, Rametti-Lacroux, Raffaele, Ferrari, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Adaikalavan, Ramasamy, Kwok, John B. J., Carol Dobson- Stone, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Olivier, Piguet, Lauren, Bartley, Elizabeth, Thompson, Isabel Herna, ́ ndez, Agustı ́n Ruiz, Merce`, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Cairns, Nigel J., Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigi, Forloni, Diego, Albani, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, ́ n, Jordi Clarimo, Alberto Lleo, ́, Rafael, Blesa, Maria Landqvist Waldo, ̈, Karin, Nilsson, Christer, Nilsson, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, David M. A., Jordan, Grafman, Morris, Christopher M., Johannes, Attems, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Pietro, Pietrini, Edward, Uey, Wassermann, Eric M., Atik, Baborie, Evelyn, Jaros, Tierney, Michael C., Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robert, Perneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Ekaterina, Rogaeva, Peter St George-Hyslop, Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, Rowe, James B., Schlachetzki, Johannes C. M., James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Van Deerlin, Vivianna M., Murray, Grossman, Trojanowski, John Q., Julie van der Zee, Christine Van Broeckhoven, Cappa, Stefano F., Isabelle, Leber, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Nielsen, Jørgen E., Hjermind, Lena E., Matthias, Riemenschneider, Manuel, Mayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Maria Grazia Spillantini, Morris, Huw R., Patrizia, Rizzu, Peter, Heutink, Snowden, Julie S., Sara, Rollinson, Anna, Richardson, Alexander, Gerhard, Bruni, Amalia C., Raffaele, Maletta, Francesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., David, Knopman, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Howard, Rosen, van Swieten, John C., Dopper, Elise G. P., Harro, Seelaar, Pijnenburg, Yolande A. L., Philip, Scheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Puca, Annibale A., Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolo, Sorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Adeline, Rollin, Dimitrios, Kapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Singleton, Andrew B., John, Hardy, Parastoo, Momeni., Neurology, Amsterdam Neuroscience - Neurodegeneration, 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital Dupuytren [CHU Limoges], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Center for Molecular Neurology (VIB-UAntwerp), University of Antwerp (UA), University College of London [London] (UCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Neurologie [Hôpitaux Civils de Colmar], Hôpitaux Civils Colmar, Mécanismes Centraux et Périphériques de la Neurodégénérescence, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Yves le Foll, Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Regional Neurogenetic Centre [Lamezia Terme, Italy] (CRN - ASP Catanzaro), Hospital Central de Asturias, Institute of Health Research of Principado de Asturias (ISPA), Fundación Jiménez Díaz, Fundacion Jimenez Diaz [Madrid] (FJD), Faculdade de Medicina [Lisboa], Universidade de Lisboa = University of Lisbon (ULISBOA), Karolinska University Hospital [Stockholm], Sunnybrook Research Institute [Toronto] (SRI), Sunnybrook Health Sciences Centre, Università degli Studi di Firenze = University of Florence (UniFI), Fondazione Don Carlo Gnocchi, Plateforme Post-génomique de la Pitié-Salpêtrière (PASS-P3S), Unité Mixte de Service Production et Analyse de données en Sciences de la vie et en Santé (PASS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hospital of the University of Pennsylvania (HUP), Perelman School of Medicine, University of Pennsylvania-University of Pennsylvania, Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerpen, Belgium, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU -EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network, and Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS

Subjects
Adult, Male, TDP-43, C9orf72, SLITRK2, amyotrophic lateral sclerosis, frontotemporal dementia, Nerve Tissue Proteins, Settore MED/03 - GENETICA MEDICA, Polymorphism, Single Nucleotide, Cohort Studies, Genes, X-Linked, 80 and over, Medicine, Dementia, Humans, Allele, Age of Onset, Polymorphism, Aged, Aged, 80 and over, biology, C9orf72 Protein, business.industry, Membrane Proteins, MESH: Frontotemporal Lobar Degeneration / epidemiology, Frontotemporal Lobar, Degeneration / genetics, Genes, X-Linked / genetics, Genome-Wide Association Study / methods, Frontotemporal lobar degeneration, Single Nucleotide, Middle Aged, X-Linked, medicine.disease, Amyotrophic lateral sclerosis, Minor allele frequency, Genes, Immunology, Synaptophysin, biology.protein, Female, MESH: Adult, C9orf72 Protein / genetics, Frontotemporal Lobar Degeneration / diagnosis, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human medicine, Neurology (clinical), MESH: Humans, Membrane Proteins / genetics, Nerve Tissue Proteins / genetics, Polymorphism, Single Nucleotide / genetics, Age of onset, Frontotemporal Lobar Degeneration, business, Frontotemporal dementia, Genome-Wide Association Study
Abstract

The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to identify modifying factors of disease onset in C9orf72 carriers using a family-based approach, in pairs of C9orf72 carrier relatives with concordant or discordant age at onset. Linkage and association analyses provided converging evidence for a locus on chromosome Xq27.3. The minor allele A of rs1009776 was associated with an earlier onset (P = 1 × 10−5). The association with onset of dementia was replicated in an independent cohort of unrelated C9orf72 patients (P = 0.009). The protective major allele delayed the onset of dementia from 5 to 13 years on average depending on the cohort considered. The same trend was observed in an independent cohort of C9orf72 patients with extreme deviation of the age at onset (P = 0.055). No association of rs1009776 was detected in GRN patients, suggesting that the effect of rs1009776 was restricted to the onset of dementia due to C9orf72. The minor allele A is associated with a higher SLITRK2 expression based on both expression quantitative trait loci (eQTL) databases and in-house expression studies performed on C9orf72 brain tissues. SLITRK2 encodes for a post-synaptic adhesion protein. We further show that synaptic vesicle glycoprotein 2 and synaptophysin, two synaptic vesicle proteins, were decreased in frontal cortex of C9orf72 patients carrying the minor allele. Upregulation of SLITRK2 might be associated with synaptic dysfunctions and drives adverse effects in C9orf72 patients that could be modulated in those carrying the protective allele. How the modulation of SLITRK2 expression affects synaptic functions and influences the disease onset of dementia in C9orf72 carriers will require further investigations. In summary, this study describes an original approach to detect modifier genes in rare diseases and reinforces rising links between C9orf72 and synaptic dysfunctions that might directly influence the occurrence of first symptoms.

Published
2021
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12. Daily life activities in patients with Alzheimer’s disease or semantic dementia: Multitasking assessment

Author

Olivier Moreaud, Frédérique Etcharry-Bouyx, Catherine Merck, Serge Belliard, Josselin Baumard, Bernard Croisile, Clémence Coiffard, Charlène Lucas, Valérie Chauviré, Christophe Jarry, Didier Le Gall, François Osiurak, Mathieu Lesourd, 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 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 (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)

Subjects
medicine.medical_specialty, Memory, Episodic, Cognitive Neuroscience, Semantic dementia, Experimental and Cognitive Psychology, Neuropsychological Tests, Audiology, 050105 experimental psychology, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Alzheimer Disease, medicine, Humans, Semantic memory, Human multitasking, 0501 psychology and cognitive sciences, Neuropsychological assessment, Episodic memory, ComputingMilieux_MISCELLANEOUS, Memory Disorders, medicine.diagnostic_test, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, 05 social sciences, Neuropsychology, Cognition, medicine.disease, Executive functions, Frontotemporal Dementia, Psychology, 030217 neurology & neurosurgery
Abstract

The aim of the present study was to compare patients with mild to moderate Alzheimer's disease (AD) or semantic dementia (SD) on their cognitive processes and the severity of their daily life activity impairments. Three types of tasks were administered to patients (SD = 15; AD = 31) and 30 healthy controls (HC): 1) informant-based scales and questionnaires, 2) a neuropsychological assessment exploring executive functions, episodic and semantic memory, and 3) a new original test featuring multi-step naturalistic actions and multitasking: the Sequential Daily Life Multitasking (SDLM). We predicted that patients with AD would mainly exhibit task perplexity, associated with episodic and executive deficits on the SDLM, while the behavior of patients with SD would mostly be characterized by object perplexity, associated with semantic memory deficits. Results showed that patients with AD or SD were impaired across all neuropsychological tests, particularly episodic memory in AD and semantic memory in SD. General performance on the SDLM also appeared dramatically impaired in both patient groups, and correlated with results of questionnaires about instrumental activities and memory impairments. However, specific qualitative measurements on the SDLM did not allow us to pinpoint different patterns of errors and behavior in patients with AD versus SD. We suggest that the inability of patients in both groups to perform the SDLM may derive from a constellation of disorders or else from more subtle impairment of cognitive and conative processes that requires further exploration.

Published
2021
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13. High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

Author

Caroline Moreau, Carole Roué-Jagot, Daniele Mandia, Marion Plaze, Nicolas Mélé, Adrian Degardin, Serge Belliard, Mathieu Anheim, Cyril Goizet, Claire Ewenczyk, Pierre Ellul, Cécile Pagan, Angèle Consoli, David Wallon, Ali Amad, Isabelle Le Ber, Soumeya Bekri, Marie Sarazin, Alexandre Morin, Guilhem Carle, Yann Nadjar, Magali Pettazzoni, Julien Lagarde, Lorraine Hamelin, Foudil Lamari, Christine Tranchant, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), and Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Adult, Male, medicine.medical_specialty, Neurology, Adolescent, Disease, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Diabetes mellitus, Miglustat, medicine, Humans, 030212 general & internal medicine, Genetic Testing, Cognitive decline, Psychiatry, Child, Genetic testing, Neuroradiology, Aged, Aged, 80 and over, medicine.diagnostic_test, business.industry, Niemann-Pick Disease, Type C, Middle Aged, medicine.disease, Early Diagnosis, Frontal lobe, Psychotic Disorders, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Biomarkers, medicine.drug
Abstract

Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease if given early. Recently, three plasma screening biomarkers (PSBs) were developed [cholestane3beta,5alpha,6betatriol (C-triol), 7-ketocholesterol (7-KC), and lysosphingomyelin-509 (LSM-509)], allowing a simpler and quite robust screening of patients suitable for genetic testing. The objective of our study was to evaluate practical utility and feasibility of large-scale PSB screening for NP-C in selected adult patients. Patients were prospectively enrolled if they showed, starting from 12 years of age, at least one of the three initial neuro-psychiatric manifestations described in NP-C: (1) gait disorder (cerebellar and/or dystonic); (2) cognitive decline with frontal lobe syndrome; (3) atypical psychosis. PSBs were measured in plasma of all patients and, if positive (LSM-509 and/or C-triol + 7-KC elevated), sequencing of NPC1 and NPC2 genes was performed. A total of 251 patients [136 males, 115 females; median age 42.1 (range 12.2-85.6) years] were screened. Six patients had positive PSBs. Two were confirmed to have NP-C (0.8% diagnostic yield, both with all three PSBs highly increased, especially LSM-509). False-positive rate was 1.2%, which was identical if only considering LSM-509. By contrast, false-positive rates were 8.1% and 5.7% for 7-KC and C-triol, respectively. We showed that selecting patients with neurologic and/or psychiatric symptoms consistent with NP-C for large-scale PSB screening is a simple and valid strategy to identify new adult NP-C patients, and would probably lead to earlier diagnosis and treatment administration if widely applied.

Published
2020
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14. Identification of taxonomic and thematic relationships: Do the two semantic systems have the same status in semantic dementia?

Author

Solène Kalénine, Eric Jamet, Serge Belliard, Anne Salmon, Audrey Noël, Maxime Robert, Catherine Merck, Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], Centre de Recherches en Psychologie Cognition et Communication (CRPCC EA 1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-MEN : EA1285-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), 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), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Lille - Faculté des Humanités (Lille Humanités), Université de Lille, Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Université de Lille - UFR des Humanités (Lille UFRH), CNRS, CHU Lille, and Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab]

Subjects
Male, Eye Movements, Thematic Apperception Test, Semantic dementia, [SHS.PSY]Humanities and Social Sciences/Psychology, explicit matching task, PsycINFO, Fixation, Ocular, Neuropsychological Tests, Semantics, Choice Behavior, 050105 experimental psychology, [SHS]Humanities and Social Sciences, [SCCO]Cognitive science, Alzheimer Disease, medicine, 80 and over, Semantic memory, Humans, 0501 psychology and cognitive sciences, Set (psychology), ComputingMilieux_MISCELLANEOUS, thematic system, Aged, semantic disequilibrium, 05 social sciences, Fixation (psychology), Middle Aged, medicine.disease, Classification, Gaze, Magnetic Resonance Imaging, Neuropsychology and Physiological Psychology, Knowledge, taxonomic system, Frontotemporal Dementia, [SCCO.PSYC]Cognitive science/Psychology, Visual Perception, Eye tracking, Dementia, Female, Psychology, Psychomotor Performance, Cognitive psychology
Abstract

Disequilibrium between the taxonomic and thematic semantic systems was previously hypothesized in participants with semantic dementia (SD), without rigorously assessing their ability to identify the two types of semantic relationships. Therefore, the aim of the present study was to directly compare the ability of 10 participants with SD, 10 participants with Alzheimer's disease (AD), and 20 controls to identify thematic versus taxonomic relationships. : Participants performed an explicit forced-choice picture-matching task in which they had to determine which of two pictures of choice was semantically related to the target picture. Target pictures could display natural or artifact objects. Each target was presented once with a taxonomically related picture and once with a thematically related picture. : Analyses of correct thematic and taxonomic matches as a function of target domain showed that the performance of the two groups of patients differed in the taxonomic conditions but not in the thematic conditions, demonstrating a relative preservation of thematic knowledge in SD. Additional correlation analyses further indicated that the particular status of thematic relationships in SD was even stronger for artifact concepts. : Results provide evidence of the heterogeneous nature of semantic knowledge disruption in SD, and could be regarded as being consistent with the existence of two neuroanatomically and functionally distinct semantic systems. Results further stress the relevance of performing a more detailed and complete assessment of semantic performance in participants with SD, in order to capture the impaired but also preserved aspects of their knowledge.

Published
2020
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15. Identification of taxonomic and thematic relationships: Do the two semantic systems have the same status in semantic dementia?

Author

Camille Hou, Catherine Merck, Anne Salmon, Eric Jamet, Solène Kalénine, Serge Belliard, Maxime Robert, Audrey Noël, Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], Centre de Recherches en Psychologie Cognition et Communication (CRPCC EA 1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-MEN : EA1285-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Neuropsychologie cognitive et neuroanatomie fonctionnelles de la mémoire humaine, Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Sciences Cognitives et Sciences Affectives (SCALab) - UMR 9193 (SCALab), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, CHU Lille, Centre de Recherches en Psychologie Cognition et Communication [CRPCC EA 1285], Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 [SCALab], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 (SCALab), Université de Lille, LillOA, Service de Neurologie [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), 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]), and Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE)

Subjects
Male, Aged, 80 and over, Alzheimer Disease, Choice Behavior, Classification, Dementia, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Neuropsychological Tests, Semantics, Thematic Apperception Test, Visual Perception, Semantic dementia, explicit matching task, semantic disequilibrium, taxonomic system, thematic system, Visual perception, [SHS.PSY]Humanities and Social Sciences/Psychology, 050105 experimental psychology, Correlation, [SCCO]Cognitive science, 03 medical and health sciences, 0302 clinical medicine, Stress (linguistics), medicine, Semantic memory, 0501 psychology and cognitive sciences, Relevance (information retrieval), ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, 05 social sciences, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, medicine.disease, Clinical Psychology, Thematic map, Neurology, semantic dementia, [SCCO.PSYC]Cognitive science/Psychology, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, [SDV.NEU.SC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Cognitive psychology
Abstract

Disequilibrium between the taxonomic and thematic semantic systems was previously hypothesized in participants with semantic dementia (SD), without rigorously assessing their ability to identify the two types of semantic relationships. Therefore, the aim of the present study was to directly compare the ability of 10 participants with SD, 10 participants with Alzheimer's disease (AD), and 20 controls to identify thematic versus taxonomic relationships. : Participants performed an explicit forced-choice picture-matching task in which they had to determine which of two pictures of choice was semantically related to the target picture. Target pictures could display natural or artifact objects. Each target was presented once with a taxonomically related picture and once with a thematically related picture. : Analyses of correct thematic and taxonomic matches as a function of target domain showed that the performance of the two groups of patients differed in the taxonomic conditions but not in the thematic conditions, demonstrating a relative preservation of thematic knowledge in SD. Additional correlation analyses further indicated that the particular status of thematic relationships in SD was even stronger for artifact concepts. : Results provide evidence of the heterogeneous nature of semantic knowledge disruption in SD, and could be regarded as being consistent with the existence of two neuroanatomically and functionally distinct semantic systems. Results further stress the relevance of performing a more detailed and complete assessment of semantic performance in participants with SD, in order to capture the impaired but also preserved aspects of their knowledge. 41

Published
2020
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16. Learning What You Know: How Prior Knowledge Impairs New Associative Learning in Early AD

Author

Pierre-Yves Jonin, Quentin Duché, Elise Bannier, Isabelle Corouge, Jean-Christophe Ferré, Serge Belliard, Christian Barillot, Emmanuel Barbeau, Vision, Action et Gestion d'informations en Santé (VisAGeS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), CHU Pontchaillou [Rennes], Neuroimagerie: méthodes et applications (Empenn), Service de Neurologie [CHU Rennes], Centre de recherche cerveau et cognition (CERCO), 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)-Centre National de la Recherche Scientifique (CNRS), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Empenn, 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)-Centre National de la Recherche Scientifique (CNRS), Jonin, Pierre-Yves, 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), and 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)

Subjects
Recognition memory, Associative memory, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SCCO.PSYC] Cognitive science/Psychology, fMRI, [SCCO.PSYC]Cognitive science/Psychology, Alzheimer's disease, Prior Knowledge, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

17. Distinct white matter injury associated with medial temporal lobe atrophy in Alzheimer's versus semantic dementia

Author

Francis Eustache, Vincent de la Sayette, Brigitte Landeau, Renaud La Joie, Audrey Perrotin, Béatrice Desgranges, Gaël Chételat, Florence Mézenge, Serge Belliard, and Alexandre Bejanin

Subjects
0301 basic medicine, Radiological and Ultrasound Technology, business.industry, Hippocampus, Semantic dementia, Grey matter, medicine.disease, Corpus callosum, Temporal lobe, White matter, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Atrophy, medicine.anatomical_structure, Neurology, medicine, Cingulum (brain), Radiology, Nuclear Medicine and imaging, Neurology (clinical), Anatomy, business, Neuroscience, 030217 neurology & neurosurgery
Abstract

This study aims at further understanding the distinct vulnerability of brain networks in Alzheimer's disease (AD) versus semantic dementia (SD) investigating the white matter injury associated with medial temporal lobe (MTL) atrophy in both conditions. Twenty-six AD patients, twenty-one SD patients, and thirty-nine controls underwent a high-resolution T1-MRI scan allowing to obtain maps of grey matter volume and white matter density. A statistical conjunction approach was used to identify MTL regions showing grey matter atrophy in both patient groups. The relationship between this common grey matter atrophy and white matter density maps was then assessed within each patient group. Patterns of grey matter atrophy were distinct in AD and SD but included a common region in the MTL, encompassing the hippocampus and amygdala. This common atrophy was associated with alterations in different white matter areas in AD versus SD, mainly including the cingulum and corpus callosum in AD, while restricted to the temporal lobe - essentially the uncinate and inferior longitudinal fasciculi - in SD. Complementary analyses revealed that these relationships remained significant when controlling for global atrophy or disease severity. Overall, this study provides the first evidence that atrophy of the same MTL region is related to damage in distinct white matter fibers in AD and SD. These different patterns emphasize the vulnerability of distinct brain networks related to the MTL in these two disorders, which might underlie the discrepancy in their symptoms. These results further suggest differences between AD and SD in the neuropathological processes occurring in the MTL. Hum Brain Mapp 38:1791-1800, 2017. © 2017 Wiley Periodicals, Inc.

Published
2016
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18. Troubles d'utilisation des objets dans les pathologies neurodégénératives : Rôles de la mémoire sémantique et du raisonnement technique

Author

Catherine Merck, Serge Belliard, Mathieu Lesourd, Olivier Moreaud, Valérie Chauviré, Bernard Croisile, Didier Le Gall, François Osiurak, Frédérique Etcharry-Bouyx, Christophe Jarry, Josselin Baumard, 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), Service de Neurologie, CHU Pontchaillou, Rennes, Département de Neurologie, CHU Angers, France, Neuropsychologie cognitive et neuroanatomie fonctionnelles de la mémoire humaine, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-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.), ANR-11-MALZ-0006,DUO,Démences et utilisation d'outils(2011), ANR-11-LABX-0042,CORTEX,Construction, Fonction Cognitive et Réhabilitation du Cerveau(2011), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Apraxias, Cognitive Neuroscience, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Semantic dementia, Experimental and Cognitive Psychology, Context (language use), Neuropsychological Tests, Apraxia, 050105 experimental psychology, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Memory, mechanical problem-solving, medicine, Humans, Semantic memory, Corticobasal degeneration, 0501 psychology and cognitive sciences, Problem Solving, Aged, Aged, 80 and over, Tool Use Behavior, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, apraxia, Contextual Associations, Alzheimer's disease, Middle Aged, medicine.disease, Neuropsychology and Physiological Psychology, semantic dementia, Frontotemporal Dementia, [SCCO.PSYC]Cognitive science/Psychology, Nerve Degeneration, Female, Psychology, 030217 neurology & neurosurgery, corticobasal degeneration, Cognitive psychology, Frontotemporal dementia
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
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19. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

Author

Simon Samaan, Emmanuel Ellie, Didier Hannequin, Frédérique Etcharry-Bouyx, Giovanni Castelnovo, Clarisse Carra-Dalliere, Yann Nadjar, I. Le Ber, Kevin Mouzat, Xavier Ayrignac, Imen Dorboz, F. Mochel, Odile Boespflug-Tanguy, Christophe Verny, Pierre Labauge, Serge Lumbroso, Pekes Codjia, Cecilia Marelli, Serge Belliard, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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 Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Le CHCB, Centre Hospitalier de la Côte Basque, 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] = Neurology [Rennes], CHU Pontchaillou [Rennes], Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [Rennes], Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]

Subjects
Adult, Male, Pathology, medicine.medical_specialty, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Neuroimaging, [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine, Fluid-attenuated inversion recovery, 030218 nuclear medicine & medical imaging, White matter, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Leukoencephalopathies, medicine, Humans, Radiology, Nuclear Medicine and imaging, Axonal spheroids, business.industry, Adult Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, 3. Good health, medicine.anatomical_structure, Corticospinal tract, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), France, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

International audience; Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is an autosomal dominant leukoencephalopathy related to CSF1R gene mutations. A growing number of clinicoradiologic phenotypes have been described. In this study, we analyzed brain imaging findings in 16 patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia to refine radiologic diagnostic clues. T2/FLAIR white matter hyperintensities were present in all patients with frontal or frontoparietal predilection, with asymmetric distribution in more than one-third. Brain atrophy and callosal involvement were almost constant, and corticospinal tract involvement was frequent. Moreover, deep white matter hyperintense dots on DWI and deep punctate calcifications on CT were often found. Conversely, deep gray matter nuclei, external capsules, and brain stem were rarely involved. Our series emphasized the great variability of MR imaging findings seen in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. A complete imaging screening including DWI, T2*, and CT is mandatory to accurately assess patients with suspected inherited adult-onset leukoencephalopathy.

Published
2018
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20. P2‐277: CORTICAL SULCI WIDTH AND INCIDENT DEMENTIA IN OUTPATIENTS ATTENDING FRENCH MEMORY CLINICS: THE MEMENTO COHORT

Author

Claire Paquet, Serge Belliard, Clara Fischer, Jean-François Mangin, Denis Rivière, Florence Pasquier, Geneviève Chêne, Pierre Jean Ousset, Chabha Azouani, Bruno Dubois, Zhong Sun, Marie Chupin, Carole Dufouil, Frédéric Blanc, and Vincent Bouteloup

Subjects
Pediatrics, medicine.medical_specialty, Epidemiology, business.industry, Health Policy, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Cohort, Medicine, Dementia, Neurology (clinical), Geriatrics and Gerontology, business
Published
2018
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21. Distinct Interplay Between Atrophy and Hypometabolism in Alzheimer's Versus Semantic Dementia

Author

Francis Eustache, Brigitte Landeau, Béatrice Desgranges, Vincent de La Sayette, Renaud La Joie, Serge Belliard, Alexandre Bejanin, and Gaël Chételat

Subjects
Male, Cognitive Neuroscience, Semantic dementia, Disease, 050105 experimental psychology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Atrophy, Neuroimaging, Alzheimer Disease, medicine, Humans, 0501 psychology and cognitive sciences, Pathological, Aged, business.industry, 05 social sciences, Neurodegeneration, Multimodal neuroimaging, Brain, medicine.disease, Magnetic Resonance Imaging, Multiple pathologies, Frontotemporal Dementia, Positron-Emission Tomography, Female, business, Neuroscience, 030217 neurology & neurosurgery
Abstract

Multimodal neuroimaging analyses offer additional information beyond that provided by each neuroimaging modality. Thus, direct comparisons and correlations between neuroimaging modalities allow revealing disease-specific topographic relationships. Here, we compared the topographic discrepancies between atrophy and hypometabolism in two neurodegenerative diseases characterized by distinct pathological processes, namely Alzheimer's disease (AD) versus semantic dementia (SD), to unravel their specific influence on local and global brain structure-function relationships. We found that intermodality topographic discrepancies clearly distinguished the two patient groups: AD showed marked discrepancies between both alterations, with greater hypometabolism than atrophy in large posterior associative neocortical regions, while SD showed more topographic consistency between atrophy and hypometabolism across brain regions. These findings likely reflect the multiple pathologies versus the relatively unitary pathological process underlying AD versus SD respectively. Our results evidence that multimodal neuroimaging-derived indexes can provide clinically relevant information to discriminate the two diseases, and potentially reveal distinct neuropathological processes.

Published
2018

22. Superior explicit memory despite severe developmental amnesia: In-depth case study and neural correlates

Author

Pierre-Yves Jonin, Christian Barillot, Serge Belliard, Gabriel Besson, Emmanuel J. Barbeau, Jérémie Pariente, Renaud La Joie, Jonin, Pierre-Yves, Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], 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), Vision, Action et Gestion d'informations en Santé (VisAGeS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Neuropsychologie et imagerie de la mémoire humaine (NIMH), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Service de Neurologie [CHU Pontchaillou], Centre de recherche cerveau et cognition ( CERCO ), Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique ( CNRS ), Vision, Action et Gestion d'informations en Santé ( VisAGeS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE ( IRISA_D5 ), Institut de Recherche en Informatique et Systèmes Aléatoires ( IRISA ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National des Sciences Appliquées - Rennes ( INSA Rennes ), Institut National des Sciences Appliquées ( INSA ) -Université de Rennes ( UNIV-RENNES ) -Institut National des Sciences Appliquées ( INSA ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -IMT Atlantique Bretagne-Pays de la Loire ( IMT Atlantique ) -Université de Rennes 1 ( UR1 ), Institut National des Sciences Appliquées ( INSA ) -Université de Rennes ( UNIV-RENNES ) -Institut National des Sciences Appliquées ( INSA ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -IMT Atlantique Bretagne-Pays de la Loire ( IMT Atlantique ) -Institut de Recherche en Informatique et Systèmes Aléatoires ( IRISA ), Institut National des Sciences Appliquées ( INSA ) -Université de Rennes ( UNIV-RENNES ) -Institut National des Sciences Appliquées ( INSA ) -Université de Bretagne Sud ( UBS ) -École normale supérieure - Rennes ( ENS Rennes ) -CentraleSupélec-Centre National de la Recherche Scientifique ( CNRS ) -IMT Atlantique Bretagne-Pays de la Loire ( IMT Atlantique ), Neuropsychologie et imagerie de la mémoire humaine ( NIMH ), Université de Caen Normandie ( UNICAEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -École pratique des hautes études ( EPHE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Toulouse Neuro Imaging Center ( ToNIC ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), 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)-Centre National de la Recherche Scientifique (CNRS), Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), 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 de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes 1 (UR1), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], and CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]

Subjects
Adult, Male, Memory, Episodic, Cognitive Neuroscience, Intelligence, Amnesia, Hippocampus, single case study, Neuropsychological Tests, recognition memory, 050105 experimental psychology, Temporal lobe, new learning, 03 medical and health sciences, Spatial Processing, 0302 clinical medicine, amnesia, Explicit memory, medicine, Humans, Semantic memory, 0501 psychology and cognitive sciences, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Hypoxia, Episodic memory, Spatial Memory, Recognition memory, Cerebral Cortex, Neural correlates of consciousness, 05 social sciences, Recognition, Psychology, Magnetic Resonance Imaging, Temporal Lobe, RRID: SCR_009567, Semantics, Knowledge, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Mental Recall, Intensive Care, Neonatal, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Atrophy, medicine.symptom, Psychology, Neuroscience, 030217 neurology & neurosurgery
Abstract

International audience; The acquisition of new semantic memories is sometimes preserved in patients with hippocampal amnesia. Robust evidence for this comes from case reports of developmental amnesia suggesting that low-to-normal levels of semantic knowledge can be achieved despite compromised epi-sodic learning. However, it is unclear whether this relative preservation of semantic memory results from normal acquisition and retrieval or from residual episodic memory, combined with effortful repetition. Furthermore, lesion studies have mainly focused on the hippocampus itself, and have seldom reported the state of structures in the extended hippocampal system. Preserved components of this system may therefore mediate residual episodic abilities, contributing to the apparent semantic preservation. We report an in-depth study of Patient KA, a 27-year-old man who had severe hypoxia at birth, in which we carefully explored his residual episodic learning abilities. We used novel speeded recognition paradigms to assess whether KA could explicitly acquire and retrieve new context-free memories. Despite a pattern of very severe amnesia, with a 44-point discrepancy between his intelligence and memory quotients, KA exhibited normal-to-superior levels of knowledge, even under strict time constraints. He also exhibited normal-to-superior recognition memory for new material, again under strict time constraints. Mul-timodal neuroimaging revealed an unusual pattern of selective atrophy within each component of the extended hippocampal system, contrasting with the preservation of anterior subhippocampal cortices. A cortical thickness analysis yielded a pattern of thinner but also thicker regional cortices, pointing toward specific temporal lobe reorganization following early injury. We thus report the first case of superior explicit learning and memory in a severe case of amnesia, raising important questions about how such knowledge can be acquired.

Published
2018
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23. Prevalence of amyloid‐β pathology in distinct variants of primary progressive aphasia

Author

Philip Scheltens, Ellen Gelpi, Raquel Sánchez-Valle, María Nieves Cabrera-Martín, Rik Ossenkoppele, Olivier Piguet, William W. Seeley, Gaël Chételat, Harro Seelaar, M.-Marsel Mesulam, Willemijn J. Jansen, Miguel A. Santos-Santos, M. Antoinette Keulen, David J. Irwin, Julia Keith, Kristensen Nora, Janine Diehl-Schmid, Edmond Teng, Jordi A. Matías-Guiu, Mario Masellis, Marie Sarazin, Yolande A.L. Pijnenburg, Bradford C. Dickerson, Murray Grossman, Ismael Calandri, Claire Paquet, Timo Grimmer, Roberto Santangelo, Ian R. A. Mackenzie, Robert Laforce, Jeéreémie Pariente, Cristian E. Leyton, Lejla Koric, Jennifer M. Harris, Jason D. Warren, Rik Vandenberghe, John C. van Swieten, Wiesje M. van der Flier, Ging-Yuek Robin Hsiung, Elias Granadillo, Rémi W. Bouchard, Vincent Deramecourt, Niklas Mattsson, Sandra E. Black, Christopher C. Rowe, Jonathan M. Schott, Philipp T. Meyer, David G. Mann, Marc Teichmann, Colin Groot, Florence Pasquier, Alejandra A. Amengual, Victor L. Villemagne, Patricio Chrem-Méndez, Nick C. Fox, Giuseppe Magnani, Jonathan D. Rohrer, Bart N.M. van Berckel, Eloi Magnin, John R. Hodges, Mario F. Mendez, Janne M. Papma, Pieter Jelle Visser, Oskar Hansson, Michel Bottlaender, Matthew Jones, Bruce L. Miller, Julien Dumurgier, Emily Rogalski, Alberto Lleó, Sang Won Seo, Rafael Blesa, Juan Fortea, Oriol Grau-Rivera, David Bergeron, Kristian Steen Frederiksen, Maria Luisa Gorno-Tempini, Gil D. Rabinovici, David A. Wolk, Bruno Dubois, Christer Nilsson, Lars Frings, Serge Belliard, Julie S. Snowden, Pascual Sánchez-Juan, Carole Miguet-Alfonsi, Duchange, Nathalie, Interdisciplinary Clinic of Memory of the Child Jesus, Université Laval [Québec] (ULaval), Alzheimer Center Amsterdam, VU University Medical Center [Amsterdam], Memory and Aging Center [San Francisco, CA, États-Unis], University of California [San Francisco] (UC San Francisco), University of California (UC)-University of California (UC), Llobregat Hospital [Barcelona], Institute of Neurology [London], University College of London [London] (UCL), August Pi i Sunyer Biomedical Research Institute [Barcelona], Medizinische Universität Wien = Medical University of Vienna, Erasmus University Medical Center [Rotterdam] (Erasmus MC), The University of Sydney, University of New South Wales [Sydney] (UNSW), Australian Research Council Centre of Excellence in Cognition and its Disorders [Sidney], Massachusetts Alzheimer's Disease Research Center, Harvard Medical School [Boston] (HMS), Rush University [Chicago], Northwestern University Medical School [Chicago], 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), Toulouse Neuro Imaging Center (ToNIC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, University of British Columbia (UBC), University of Pennsylvania, Greater Manchester Neurosciences Centre, University of Manchester [Manchester], Neurological Research Institute [Buenos Aires], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Vita Salute University [Milan], IRCCS Ospedale San Raffaele [Milan, Italy], 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), Lund University [Lund], Skane University Hospital [Malmo], University of Toronto, Sunnybrook Research Institute [Toronto] (SRI), Sunnybrook Health Sciences Centre, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), San Carlos Clinical Hospital [Madrid], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [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), Imagerie Moléculaire in Vivo (IMIV - U1023 - ERL9218), Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Austin Health, University of Melbourne, University Hospitals Leuven [Leuven], University of California [Los Angeles] (UCLA), University of California (UC), VA Greater Los Angeles Healthcare System, West Los Angeles VA Medical Center, University Hospital of Freiburg, Universitat Autònoma de Barcelona (UAB), Santa Cruz and Saint Paul Hospital [Barcelona], Center for Biomedical Network Research on Neurodegenerative Diseases [Barcelona], Samsung Medical Center Sungkyunkwan University School of Medicine, Institute Division of Hematology/Oncology, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Danish Dementia Research Center [Copenhagen], Marqués de Valdecilla University Hospital [Santander], Physiopathologie et imagerie des troubles neurologiques (PhIND), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), School for Mental Health and Neuroscience - Alzheimer Center Limburg (MUMC), Maastricht University [Maastricht], Banner Alzheimer's Institute [Phoenix], Clinique Interdisciplinaire de Mémoire de l'Enfant-Jésus, Centre Hospitalier de l'Université de Laval (CHUL), Vrije Universiteit Amsterdam [Amsterdam] (VU), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Toulouse Mind & Brain Institut (TMBI), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), University Hospital Freiburg, Neurology, Divisions, Amsterdam Neuroscience - Neurodegeneration, Radiology and nuclear medicine, APH - Personalized Medicine, APH - Methodology, Epidemiology and Data Science, Human genetics, Psychiatrie & Neuropsychologie, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, 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), University of California [San Francisco] (UCSF), University of California-University of California, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], University of Pennsylvania [Philadelphia], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of California, VU University Amsterdam, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU)

Subjects
Male, NATIONAL INSTITUTE, 0301 basic medicine, Apolipoprotein E, Aging, Pathology, Neurology, LANGUAGE, Autopsy, Neurodegenerative, Alzheimer's Disease, Primary progressive aphasia, 0302 clinical medicine, 80 and over, Prevalence, 2.1 Biological and endogenous factors, Medicine, HETEROGENEITY, Aetiology, Alzheimer's Disease Related Dementias (ADRD), ALZHEIMER-DISEASE, Aged, 80 and over, screening and diagnosis, DEMENTIA, Age Factors, Brain, Frontotemporal lobar degeneration, Middle Aged, respiratory system, 3. Good health, Frontotemporal Dementia (FTD), Detection, Neurological, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Alzheimer's disease, medicine.symptom, 4.2 Evaluation of markers and technologies, medicine.medical_specialty, Genotype, Primary Progressive, Clinical Sciences, BIOMARKERS, DIAGNOSIS, Article, 03 medical and health sciences, Rare Diseases, Apolipoproteins E, Clinical Research, Aphasia, mental disorders, Acquired Cognitive Impairment, Genetics, Humans, Dementia, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Aged, Neurology & Neurosurgery, Amyloid beta-Peptides, business.industry, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), medicine.disease, Brain Disorders, Aphasia, Primary Progressive, PET, 030104 developmental biology, FRONTOTEMPORAL PATHOLOGY, Neurology (clinical), CONSENSUS, business, 030217 neurology & neurosurgery
Abstract

Objective Methods To estimate the prevalence of amyloid positivity, defined by positron emission tomography (PET)/cerebrospinal fluid (CSF) biomarkers and/or neuropathological examination, in primary progressive aphasia (PPA) variants. We conducted a meta-analysis with individual participant data from 1,251 patients diagnosed with PPA (including logopenic [lvPPA, n = 443], nonfluent [nfvPPA, n = 333], semantic [svPPA, n = 401], and mixed/unclassifiable [n = 74] variants of PPA) from 36 centers, with a measure of amyloid-beta pathology (CSF [n = 600], PET [n = 366], and/or autopsy [n = 378]) available. The estimated prevalence of amyloid positivity according to PPA variant, age, and apolipoprotein E (ApoE) epsilon 4 status was determined using generalized estimating equation models. Results Interpretation Amyloid-beta positivity was more prevalent in lvPPA (86%) than in nfvPPA (20%) or svPPA (16%; p

Published
2018
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24. Particularités du variant logopénique au sein des aphasies progressives primaires

Author

Marc Teichmann, Thierry Moulin, Olivier Martinaud, Pierre Vandel, E. Magnin, I. Ryff, Jean-François Démonet, Serge Belliard, Olivier Moreaud, Jérémie Pariente, Centre Mémoire de Ressources et de Recherche [CHRU de Besançon] (CMRR), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques [CHRU de Besançon], Centre Leenaards de la Mémoire, Université de Lausanne (UNIL)-CHUV, CMRR - Centre Mémoire de Ressources et de Recherche [Paris Sud], Centre Mémoire de Ressources et Recherche - CMRR [Haute-Normandie], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Laboratoire de Psychologie et NeuroCognition (LPNC), 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]), Centre Mémoire de Ressources et de Recherche [Grenoble] (CMRR), Centre Hospitalier Universitaire [Grenoble] (CHU), CMRR - Centre de Mémoire de Ressources et de Recherche [Rennes], Fédération des Centres Mémoire de Ressource et de Recherche du Sud de la France [CHU Toulouse] (F-CMRR-SF), Centre hospitalier universitaire de Toulouse - CHU Toulouse-Hôpital La Grave-Casselardit [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], and CHU Toulouse [Toulouse]

Subjects
05 social sciences, Temporoparietal junction, Neuropsychology, Neuropathology, Frontotemporal lobar degeneration, Disease, Aphasiology, medicine.disease, 050105 experimental psychology, [SHS]Humanities and Social Sciences, 3. Good health, Primary progressive aphasia, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Neurology, medicine, 0501 psychology and cognitive sciences, Neurology (clinical), Psychology, Episodic memory, Neuroscience, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery
Abstract

The logopenic variant of primary progressive aphasia is a syndrome with neuropsychological and linguistic specificities, including phonological loop impairment for which diagnosis is currently mainly based on the exclusion of the two other variants, semantic and nonfluent/agrammatic primary progressive aphasia. The syndrome may be underdiagnosed due (1) to mild language difficulties during the early stages of the disease or (2) to being mistaken for mild cognitive impairment or Alzheimer's disease when the evaluation of episodic memory is based on verbal material and (3) finally, it is not uncommon that the disorders are attributed to psychiatric co-morbidities such as, for example, anxiety. Moreover, compared to other variants of primary progressive aphasia, brain abnormalities are different. The left temporoparietal junction is initially affected. Neuropathology and biomarkers (cerebrospinal fluid, molecular amyloid nuclear imaging) frequently reveal Alzheimer's disease. Consequently this variant of primary progressive aphasia does not fall under the traditional concept of frontotemporal lobar degeneration. These distinctive features highlight the utility of correct diagnosis, classification, and use of biomarkers to show the neuropathological processes underlying logopenic primary progressive aphasia. The logopenic variant of primary progressive aphasia is a specific form of Alzheimer's disease frequently presenting a rapid decline; specific linguistic therapies are needed. Further investigation of this syndrome is needed to refine screening, improve diagnostic criteria and better understand the epidemiology and the biological mechanisms involved.

Published
2015
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25. What semantic dementia teaches us about the functional organization of the left posterior fusiform gyrus

Author

Isabelle Corouge, Serge Belliard, Catherine Merck, Pierre-Yves Jonin, Béatrice Desgranges, Jean-Yves Gauvrit, Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Neuropsychologie et imagerie de la mémoire humaine (NIMH), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Vision, Action et Gestion d'informations en Santé (VisAGeS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Service de radiologie et imagerie médicale [Rennes] = Radiology [Rennes], Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de la Santé et de la Recherche Médicale (INSERM), Corouge, Isabelle, and Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE)

Subjects
Male, Category specificity, Neural substrate, Functional specialization, Cognitive Neuroscience, Semantic dementia, Experimental and Cognitive Psychology, Neuropsychological Tests, Functional Laterality, 050105 experimental psychology, Temporal lobe, Fruits and vegetables, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Image Processing, Computer-Assisted, medicine, Humans, 0501 psychology and cognitive sciences, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Levels-of-processing effect, Left posterior fusiform gyrus, Aged, Aged, 80 and over, [SDV.IB] Life Sciences [q-bio]/Bioengineering, Analysis of Variance, Brain Mapping, Fusiform gyrus, 05 social sciences, Cognitive neuroscience of visual object recognition, Anatomy, Middle Aged, Fusiform face area, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, Case-Control Studies, Frontotemporal Dementia, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.IB]Life Sciences [q-bio]/Bioengineering, Cognition Disorders, Mental Status Schedule, Psychology, Photic Stimulation, 030217 neurology & neurosurgery, Cognitive psychology
Abstract

International audience; After demonstrating the relative preservation of fruit and vegetable knowledge in patients with semantic de-mentia (SD), we sought to identify the neural substrate of this unusual category effect. Nineteen patients with SD performed a semantic sorting task and underwent a morphometric 3T MRI scan. The grey-matter volumes of five regions within the temporal lobe were bilaterally computed, as well as those of two recently described areas (FG1 and FG2) within the posterior fusiform gyrus. In contrast to the other semantic categories we tested, fruit and vegetable scores were only predicted by left FG1 volume. We therefore found a specific relationship between the volume of a subregion within the left posterior fusiform gyrus and performance on fruits and vegetables in SD. We argue that the left FG1 is a convergence zone for the features that might be critical to successfully sort fruits and vegetables. We also discuss evidence for a functional specialization of the fusiform gyrus along two axes (lateral medial and longitudinal), depending on the nature of the concepts and on the level of processing complexity required by the ongoing task.

Published
2017
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26. [O1–13–05]: IS THE PROSPECTIVE ASSOCIATION BETWEEN DOMAIN‐SPECIFIC COGNITIVE IMPAIRMENT AND INCIDENT DEMENTIA MODIFIED BY EDUCATION? THE MEMENTO COHORT

Author

Frédéric Blanc, Jacques Hugon, Bruno Dubois, Serge Belliard, Mathieu Ceccaldi, Sophie Auriacombe, Olivier Hanon, Olivier Rouaud, Geneviève Chêne, Pierre Jean Ousset, Catherine Thomas-Antérion, Renaud David, Florence Pasquier, Alexandra Foubert-Samier, Carole Dufouil, Pierre Krolak Salmon, and Audrey Gabelle

Subjects
Epidemiology, business.industry, Health Policy, medicine.disease, Domain (software engineering), Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Cohort, Medicine, Dementia, Neurology (clinical), Geriatrics and Gerontology, business, Cognitive impairment, Association (psychology), Clinical psychology
Published
2017
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27. Validation of the Test Your Memory (F-TYM Test) in a French Memory Clinic Population

Author

P. Clerson, Florence Pasquier, Olivier Hanon, Joël Ménard, Jean-Jacques Pere, Nicolas Postel-Vinay, Serge Belliard, Sylvie Pariel, Joël Belmin, Jeremy M Brown, Elena Paillaud, and Eliana Alonso

Subjects
Adult, Male, medicine.medical_specialty, Referral, Population, Neuropsychological Tests, Sensitivity and Specificity, Diagnosis, Differential, Arts and Humanities (miscellaneous), Internal medicine, mental disorders, Developmental and Educational Psychology, medicine, Humans, Dementia, Cognitive Dysfunction, Prospective Studies, education, Aged, 80 and over, Memory Disorders, education.field_of_study, Memory clinic, Cognitive disorder, Reproducibility of Results, Cognition, Middle Aged, Translating, medicine.disease, Test (assessment), Psychiatry and Mental health, Clinical Psychology, Memory, Short-Term, Neuropsychology and Physiological Psychology, Mood, Female, France, Cognition Disorders, Psychology, Clinical psychology
Abstract

The Test Your Memory (TYM) test has been proposed for screening dementia. We present a French version and its validation in memory clinics. F-TYM was administered to 201 patients with memory complaints visiting five secondary referral hospital centers. Final diagnosis was dementia in 34%, amnestic mild cognitive impairment (MCI) in 32%, non-amnestic MCI in 11%, absence of cognitive disorder in 23% and F-TYM scores were respectively (M ± SD) 30.9 ± 7.6, 40.5 ± 6.3, 44.3 ± 4.5 and 43.5 ± 6.6 (p < .0001). F-TYM showed high correlation with MMSE (r = .78), excellent internal consistency, no effect of educational level, sex, or mood but a significant effect of age (p = .004). A F-TYM score ≤ 39 had 0.90 sensitivity and 0.70 specificity for diagnosis of dementia. F-TYM was unable to discriminate MCI and patients without cognitive disorders. F-TYM could be proposed for screening of dementia in patients with memory complaints.

Published
2014
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28. Learning what you know: How prior knowledge impairs new associative learning in early AD

Author

Elise Bannier, Emmanuel J. Barbeau, Jean-Christophe Ferré, Christian Barillot, Pierre-Yves Jonin, Isabelle Corouge, Quentin Duché, and Serge Belliard

Subjects
Cognitive science, Neuropsychology and Physiological Psychology, Arts and Humanities (miscellaneous), Cognitive Neuroscience, Developmental and Educational Psychology, Experimental and Cognitive Psychology, Content-addressable memory, Psychology, Know-how, Recognition memory, Associative learning
Published
2019
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30. Semantic dementia: Aspects of the early diagnosis

Author

Marc Vérin, Catherine Merck, Pierre-Yves Jonin, and Serge Belliard

Subjects
Pediatrics, medicine.medical_specialty, Psychometrics, Lobar atrophy, Semantic dementia, Degeneration (medical), Disease, Neuropsychological Tests, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Humans, Semantic memory, 0501 psychology and cognitive sciences, business.industry, Mental Disorders, 05 social sciences, Cognition, medicine.disease, Early Diagnosis, Neurology, Frontotemporal Dementia, Temporal Regions, Nerve Degeneration, Disease Progression, Neurology (clinical), business, 030217 neurology & neurosurgery, Frontotemporal dementia, Cognitive psychology
Abstract

Semantic dementia is a lobar atrophy syndrome, related to a degeneration of anterior temporal regions, and characterized by a very predominant impairment of semantic memory. Whereas the diagnosis is relatively easy to establish in the typical form and if the patient is seen early, the emergence of possible additional cognitive or psycho-behavioural disorders can lead to a misdiagnosis in favour of a frontotemporal dementia syndrome or even probable Alzheimer's disease.

Published
2013
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31. Hippocampal subfield volumetry in mild cognitive impairment, Alzheimer's disease and semantic dementia☆

Author

Francis Eustache, Renaud La Joie, Vincent de La Sayette, Stéphanie Egret, Audrey Perrotin, Gaël Chételat, Serge Belliard, Béatrice Desgranges, Loïc Doeuvre, 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), Service de Neurologie [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], This work was supported by the Fondation Plan Alzheimer (Alzheimer Plan 2008-2012), Programme Hospitalier de Recherche Clinique (PHRC National 2011), Agence Nationale de la Recherche (ANR LONGVIE 2007), Région Basse Normandie, and Institut National de la Santé et de la Recherche Médicale (INSERM), including the Inserm-Liliane Bettencourt School (MD-PhD Program)., Eustache, Francis, Service de Neurologie [Rennes], Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]

Subjects
medicine.medical_specialty, MRI, Magnetic resonance imaging, Cognitive Neuroscience, Aβ, β-amyloid, PET, Positon Emission Tomography, Semantic dementia, Disease, Hippocampal formation, Article, CA1, aMCI, amnestic Mild Cognitive Impairment, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Mild Cognitive Impairment (MCI), Internal medicine, medicine, Radiology, Nuclear Medicine and imaging, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Magnetic resonance imaging (MRI), Mild cognitive impairment (MCI), HC, healthy controls, 10. No inequality, 030304 developmental biology, AUC, Area Under the receiver operating characteristic Curve, 0303 health sciences, Receiver operating characteristic, NFT, neurofibrillary tangles, Subiculum, SUVr, Standardized Uptake Value ratio, Alzheimer's disease, medicine.disease, Hippocampal subfields, ROC, receiver operating characteristic, Neurology, nervous system, Cardiology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Analysis of variance, AD, Alzheimer's disease, ANOVA, Analysis of variance, Psychology, Neuroscience, TIV, Total intracranial volume, 030217 neurology & neurosurgery
Abstract

Background Hippocampal atrophy is a well-known feature of Alzheimer's disease (AD), but sensitivity and specificity of hippocampal volumetry are limited. Neuropathological studies have shown that hippocampal subfields are differentially vulnerable to AD; hippocampal subfield volumetry may thus prove to be more accurate than global hippocampal volumetry to detect AD. Methods CA1, subiculum and other subfields were manually delineated from 40 healthy controls, 18 AD, 17 amnestic Mild Cognitive Impairment (aMCI), and 8 semantic dementia (SD) patients using a previously developed high resolution MRI procedure. Non-parametric group comparisons and receiver operating characteristic (ROC) analyses were conducted. Complementary analyses were conducted to evaluate differences of hemispheric asymmetry and anterior-predominance between AD and SD patients and to distinguish aMCI patients with or without β-amyloid deposition as assessed by Florbetapir-TEP. Results Global hippocampi were atrophied in all three patient groups and volume decreases were maximal in the CA1 subfield (22% loss in aMCI, 27% in both AD and SD; all p, Highlights • Using 3 T MRI, hippocampal subfields were measured in aMCI, AD and SD and controls. • CA1 atrophy was found to be predominant in all patient groups. • CA1 volume was the best discriminating measure between controls and aMCI patients. • AD and SD differed in asymmetry and anterior-predominance, not in subfield atrophy.

Published
2013
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32. Rethinking the Cognitive Mechanisms Underlying Pantomime of Tool Use: Evidence from Alzheimer's Disease and Semantic Dementia

Author

Frédérique Etcharry-Bouyx, Mathieu Lesourd, Bernard Croisile, Christophe Jarry, Serge Belliard, Josselin Baumard, Marine Granjon, Didier Le Gall, François Osiurak, Valérie Chauviré, Olivier Moreaud, 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), Université de Nantes (UN)-Université de Nantes (UN), Centre de Recherches sur les Fonctionnements et Dysfonctionnements Psychologiques (CRFDP), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut de Recherche Interdisciplinaire Homme et Société (IRIHS), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Department of Neurology, Centre Hospitalier Régional et Universitaire de Rennes, 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]), 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), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut de Recherche Interdisciplinaire Homme et Société (IRIHS), and Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, [SHS.PSY]Humanities and Social Sciences/Psychology, Neuropsychological Tests, Apraxia, Functional Laterality, Manipulation knowledge, Task (project management), Mechanical knowledge, 0302 clinical medicine, Unresolved Issue, 80 and over, Control (linguistics), Problem Solving, Aged, 80 and over, General Neuroscience, Statistics, 05 social sciences, Semantic dementia, Cognition, Middle Aged, Psychiatry and Mental health, Clinical Psychology, Frontotemporal Dementia, [SCCO.PSYC]Cognitive science/Psychology, Female, Alzheimer's disease, Psychology, Alzheimer’s disease, Frontotemporal dementia, Cognitive psychology, Apraxias, Recognition (Psychology), Statistics, Nonparametric, 050105 experimental psychology, Functional knowledge, 03 medical and health sciences, Alzheimer Disease, medicine, Humans, Nonparametric, 0501 psychology and cognitive sciences, Aged, Pantomime of tool use, [SCCO.NEUR]Cognitive science/Neuroscience, Recognition, Psychology, medicine.disease, Neurology (clinical), Psychomotor Performance, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

Objectives: Pantomiming the use of familiar tools is a central test in the assessment of apraxia. However, surprisingly, the nature of the underlying cognitive mechanisms remains an unresolved issue. The aim of this study is to shed a new light on this issue by exploring the role of functional, mechanical, and manipulation knowledge in patients with Alzheimer’s disease and semantic dementia and apraxia of tool use. Methods: We performed multiple regression analyses with the global performance and the nature of errors (i.e., production and conception) made during a pantomime of tool use task in patients and control participants as dependent variables and tasks investigating functional, mechanical, and manipulation knowledge as predictors. Results: We found that mechanical problem solving, assessing mechanical knowledge, was a good predictor of the global performance of pantomime of tool use. We also found that occurrence of conception errors was robustly predicted by the task assessing functional knowledge whereas that of production errors was not explained by only one predictor. Conclusions: Our results suggest that both functional and mechanical knowledge are important to pantomime the use of tools. To our knowledge, this is the first demonstration that mechanical knowledge plays a role in pantomime of tool use. Although impairment in pantomime of tool use tasks (i.e., apraxia) is widely explained by the disruption of manipulation knowledge, we propose that pantomime of tool use is a complex problem-solving task. (JINS, 2017, 23, 128–138)

Published
2017
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33. Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls

Author

Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Kilan Le Guennec, Gaël Nicolas, Ganesh Chauhan, David Wallon, Stéphane Rousseau, Anne Claire Richard, Anne Boland, Guillaume Bourque, Hans Markus Munter, Robert Olaso, Vincent Meyer, Adeline Rollin-Sillaire, Florence Pasquier, Luc Letenneur, Richard Redon, Jean-François Dartigues, Christophe Tzourio, Thierry Frebourg, Mark Lathrop, Jean-François Deleuze, Didier Hannequin, Emmanuelle Genin, Philippe Amouyel, Stéphanie Debette, Jean-Charles Lambert, Dominique Campion, Olivier Martinaud, Aline Zarea, Stéphanie Bombois, Marie-Anne Mackowiak, Vincent Deramecourt, Agnès Michon, Isabelle Le Ber, Bruno Dubois, Olivier Godefroy, Frédérique Etcharry-Bouyx, Valérie Chauviré, Ludivine Chamard, Eric Berger, Eloi Magnin, Jean-Francois Dartigues, Sophie Auriacombe, François Tison, Vincent de la Sayette, Dominique Castan, Elsa Dionet, Francois Sellal, Olivier Rouaud, Christel Thauvin, Olivier Moreaud, Mathilde Sauvée, Maïté Formaglio, Hélène Mollion, Isabelle Roullet-Solignac, Alain Vighetto, Bernard Croisile, Mira Didic, Olivier Félician, Lejla Koric, Mathieu Ceccaldi, Audrey Gabelle, Cecilia Marelli, Pierre Labauge, Thérèse Jonveaux, Martine Vercelletto, Claire Boutoleau-Bretonnière, Giovanni Castelnovo, Claire Paquet, Julien Dumurgier, Jacques Hugon, Foucauld De Boisgueheneuc, Serge Belliard, Serge Bakchine, Marie Sarazin, Marie-Odile Barrellon, Bernard Laurent, Frédéric Blanc, Jérémie Pariente, Snejana Jurici, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Excellence Laboratory LabEx DISTALZ, 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), Epidémiologie des maladies chroniques : impact des interactions gène environnement sur la santé des populations, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, INSERM Research Center for Epidemiology and Biostatistics (U897) Team Neuroepidemiology, Bordeaux, France College of Health Sciences, University of Bordeaux, Bordeaux, France, Metacohorts Consortium, Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), McGill University and Genome Quebec Innovation Centre, 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), Département de neurologie [Lille], Institut de Santé Publique, d'Epidémiologie et de Développement (ISPED), Institut National de la Santé et de la Recherche Médicale (Inserm)-Université de Bordeaux, Université de Bordeaux (UB), INSERM, Team Psycoépidémiologie du Vieillissement et des Maladies Chroniques - Population Health Center, Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Epidémiologie, santé publique et développement, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR99-ISPED, Neuroépidémiologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Université de Lille, Troubles cognitifs vasculaires et dégénératifs, Université de Lille, Sciences et Technologies, Réseau International des Instituts Pasteur (RIIP), Department of Research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), CNR MAJ collaborators, ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), European Project: 305299,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,AGEDBRAINSYSBIO(2013), 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), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM)

Subjects
0301 basic medicine, Male, Adult, Aging, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, SORL1, Apolipoprotein E4, Genome-wide association study, Biology, ABCA7, 03 medical and health sciences, Young Adult, Immunologic, Alzheimer Disease, Genetic variation, Receptors, medicine, 80 and over, TREM2, Humans, Genetic Predisposition to Disease, Receptors, Immunologic, Genetic Association Studies, LDL-Receptor Related Proteins, Aged, Aged, 80 and over, Genetics, Membrane Glycoproteins, Whole Genome Sequencing, General Neuroscience, Genetic Variation, Membrane Transport Proteins, Heritability, Middle Aged, Alzheimer's disease, medicine.disease, Minor allele frequency, 030104 developmental biology, biology.protein, ATP-Binding Cassette Transporters, Female, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology, Genome-Wide Association Study
Abstract

International audience; We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France. We assessed the evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein-truncating and missense-predicted damaging variants, we found exome-wide significant association between EOAD risk~and rare variants in SORL1, TREM2, and ABCA7. No exome-wide significant signal was obtained in the LOAD sample, and significance of the order of 10$^{-6}$ was observed in the whole AD group for TREM2. Our study confirms previous gene-level results for TREM2, SORL1, and ABCA7 and provides a~clearer insight into the classes of rare variants involved. Despite different effect sizes and~varying~cumulative minor allele frequencies, the rare protein-truncating and missense-predicted~damaging variants in TREM2, SORL1, and ABCA7 contribute similarly to the heritability of EOAD and explain between 1.1% and 1.5% of EOAD heritability each, compared with 9.12% for APOE $\varepsilon$4.

Published
2017
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34. Neural correlates of Self-Reference Effect in early Alzheimer’s disease

Author

Francis Eustache, Brigitte Landeau, Vincent de la Sayette, Nicolas Villain, Florence Mézenge, Géraldine Rauchs, Malo Gaubert, Serge Belliard, Béatrice Desgranges, Stéphanie Egret, Audrey Perrotin, Gaël Chételat, 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), Department of Neurology, Centre Hospitalier Régional et Universitaire de Rennes, Service de Neurologie [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), and Eustache, Francis

Subjects
Male, medicine.medical_specialty, Brain activity and meditation, Famous Persons, MESH: functional magnetic resonance imaging, Alzheimer disease, memory, psychology, self, media_common.quotation_subject, Disease, Audiology, Neuropsychological Tests, 050105 experimental psychology, Angular gyrus, 03 medical and health sciences, Judgment, 0302 clinical medicine, Alzheimer Disease, Medicine, Personality, Humans, 0501 psychology and cognitive sciences, Cognitive Dysfunction, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Self-reference effect, media_common, Aged, Neural correlates of consciousness, Brain Mapping, Aniline Compounds, medicine.diagnostic_test, business.industry, General Neuroscience, Self, 05 social sciences, Brain, Recognition, Psychology, General Medicine, Magnetic Resonance Imaging, Self Concept, Psychiatry and Mental health, Clinical Psychology, Positron-Emission Tomography, Ethylene Glycols, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Geriatrics and Gerontology, Radiopharmaceuticals, business, Functional magnetic resonance imaging, 030217 neurology & neurosurgery
Abstract

International audience; Information that is processed with reference to the self (i.e., self-referential processing, SRP) is generally associated with better remembering than information processed in a semantic condition. This benefit of self on memory performance is called self-reference effect (SRE). In the present study, we assessed changes in the SRE and SRP-related brain activity in patients diagnosed with mild cognitive impairment or early Alzheimer’s disease (MCI/AD). Fifteen patients with confirmed amyloid-β deposits (positive florbetapir-PET scan) and 28 healthy controls (negative florbetapir-PET scan) were included. Participants either had to judge personality trait adjectives with reference to themselves (self condition) or to a celebrity (other condition), or determine whether these adjectives were positive or not (semantic condition). These adjectives were then presented with distractors in a surprise recognition task. Functional MRI data were acquired during both the judgment and recognition tasks. The SRE, was observed in controls, but reduced in patients. Both controls and patients activated cortical midline structures when judging items with reference to themselves, but patients exhibited reduced activity in the angular gyrus. In patients, activity at encoding in the angular gyrus positively correlated with subsequent recognition accuracy in the self condition (self accuracy). This region also exhibited significant hypometabolism and Aβ burden, both related to self accuracy. By contrast, there were no differences in brain activity during recognition, either between the self and semantic conditions, or between groups. These results highlight SRE impairment in patients with MCI/AD, despite intact activity in cortical midline structures, and suggest that dysfunction of the angular gyrus is related to this impairment.

Published
2016

35. Distinct white matter injury associated with medial temporal lobe atrophy in Alzheimer's versus semantic dementia

Author

Alexandre, Bejanin, Béatrice, Desgranges, Renaud, La Joie, Brigitte, Landeau, Audrey, Perrotin, Florence, Mézenge, Serge, Belliard, Vincent, de La Sayette, Francis, Eustache, and Gaël, Chételat

Subjects
Male, Psychiatric Status Rating Scales, Analysis of Variance, Statistics as Topic, Middle Aged, Magnetic Resonance Imaging, Temporal Lobe, Alzheimer Disease, Leukoencephalopathies, Frontotemporal Dementia, Image Processing, Computer-Assisted, Humans, Female, Atrophy, Gray Matter, Research Articles, Aged
Abstract

This study aims at further understanding the distinct vulnerability of brain networks in Alzheimer's disease (AD) versus semantic dementia (SD) investigating the white matter injury associated with medial temporal lobe (MTL) atrophy in both conditions. Twenty‐six AD patients, twenty‐one SD patients, and thirty‐nine controls underwent a high‐resolution T1‐MRI scan allowing to obtain maps of grey matter volume and white matter density. A statistical conjunction approach was used to identify MTL regions showing grey matter atrophy in both patient groups. The relationship between this common grey matter atrophy and white matter density maps was then assessed within each patient group. Patterns of grey matter atrophy were distinct in AD and SD but included a common region in the MTL, encompassing the hippocampus and amygdala. This common atrophy was associated with alterations in different white matter areas in AD versus SD, mainly including the cingulum and corpus callosum in AD, while restricted to the temporal lobe — essentially the uncinate and inferior longitudinal fasciculi — in SD. Complementary analyses revealed that these relationships remained significant when controlling for global atrophy or disease severity. Overall, this study provides the first evidence that atrophy of the same MTL region is related to damage in distinct white matter fibers in AD and SD. These different patterns emphasize the vulnerability of distinct brain networks related to the MTL in these two disorders, which might underlie the discrepancy in their symptoms. These results further suggest differences between AD and SD in the neuropathological processes occurring in the MTL. Hum Brain Mapp 38:1791–1800, 2017. © 2017 Wiley Periodicals, Inc.

Published
2016

36. Symptomatic treatments in Alzheimer's disease in 2016: a study from Memory centers in France

Author

Sophie Auriacombe, Jean-Luc Novella, Thomas Desmidt, Mathieu Ceccaldi, Serge Belliard, Caroline Hommet, Gilles Berrut, Martine Vercelletto, CMRR PACA, CHU Marseille, France, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Neurosciences des Systèmes (INS), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Aged, 80 and over, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Dopamine Agents, Middle Aged, Neuropsychology and Physiological Psychology, Alzheimer Disease, Memantine, Surveys and Questionnaires, Activities of Daily Living, Humans, Medicine, Cholinesterase Inhibitors, France, Neurology (clinical), Geriatrics and Gerontology, business, Humanities, Nootropic Agents, Biological Psychiatry, ComputingMilieux_MISCELLANEOUS, Aged
Abstract

Les benefices therapeutiques des traitements disposant de l’AMM depuis plus de 15 ans dans la MA, qu’il s’agisse des anticholinesterasiques et ou de la memantine, sont modestes mais reels, confirmes par les etudes en double aveugle contre placebo ou par la comparaison avec l’evolution naturelle de la maladie. L’efficacite des inhibiteurs des cholinesterases (IchE) et de la memantine a ete mesuree sur 4 dimensions de la maladie : la cognition, les activites de vie quotidienne, les troubles de l’humeur et du comportement, et l’impression globale de changement. L’objectif de cet article est double : 1) aborder les conditions dans lesquelles ces traitements symptomatiques sont prescrits en France au travers d’une enquete nationale menee par la federation nationale des CMRR ; 2) examiner les donnees actuellement disponibles concernant leur efficacite, leur tolerance, leur impact medico-economique, ainsi que les positions des autorites sanitaires sur les conditions de leur prescription, dans les autres pays europeens.

Published
2016
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37. Distinct neural substrates of affective and cognitive theory of mind impairment in semantic dementia

Author

Francis Eustache, Vincent de la Sayette, Mickaël Laisney, Catherine Merck, Béatrice Desgranges, Gaël Chételat, Brigitte Landeau, Alexandre Bejanin, Serge Belliard, Alice Pélerin, Neuropsychologie et imagerie de la mémoire humaine (NIMH), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Service de Neurologie [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de Neurologie [CHU Rennes], CHU Pontchaillou [Rennes], CHU Caen, and Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)

Subjects
Male, Social Psychology, Rest, Theory of Mind, Semantic dementia, Development, Neuropsychological Tests, Affect (psychology), 050105 experimental psychology, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Cognition, Social cognition, Functional neuroimaging, Theory of mind, Neural Pathways, medicine, Semantic memory, Humans, 0501 psychology and cognitive sciences, Cognitive Dysfunction, ComputingMilieux_MISCELLANEOUS, Aged, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, Brain, Organ Size, medicine.disease, Affect, Social Perception, Frontotemporal Dementia, [SCCO.PSYC]Cognitive science/Psychology, Female, Atrophy, Psychology, Neuroscience, 030217 neurology & neurosurgery, Cognitive psychology, Frontotemporal dementia
Abstract

Using structural MRI, we investigated the brain substrates of both affective and cognitive theory of mind (ToM) in 19 patients with semantic dementia. We also ran intrinsic connectivity analyses to identify the networks to which the substrates belong and whether they are functionally disturbed in semantic dementia. In line with previous studies, we observed a ToM impairment in patients with semantic dementia even when semantic memory was regressed out. Our results also highlighted different neural bases according to the nature (affective or cognitive) of the representations being inferred. The affective ToM deficit was associated with atrophy in the amygdala, suggesting the involvement of emotion-processing deficits in this impairment. By contrast, cognitive ToM performances were correlated with the volume of medial prefrontal and parietal regions, as well as the right frontal operculum. Intrinsic connectivity analyses revealed decreased functional connectivity, mainly between midline cortical regions and temporal regions. They also showed that left medial temporal regions were functionally isolated, a further possible hindrance to normal social cognitive functioning in semantic dementia. Overall, this study addressed for the first time the neuroanatomical substrates of both cognitive and affective ToM disruption in semantic dementia, highlighting disturbed connectivity within the networks that sustain these abilities.

Published
2016
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38. Démence sémantique : démographie et données neuropsychologiques initiales chez 82 patients

Author

Pierre-Yves Jonin, Catherine Merck, Martine Vercelletto, Sandrine Lemoal, and Serge Belliard

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Cognitive Neuroscience, Philosophy, Humanities
Abstract

Si la demence semantique (DS) fait l’objet d’une riche litterature, peu de larges series ont ete publiees. Nous rapportons ici les donnees demographiques et neuropsychologiques initiales d’une cohorte bretonne de 82 patients suivis de maniere prospective depuis 20 ans. La demence semantique debute avant 65 ans dans 75 % des cas, mais nous avons porte ce diagnostic chez deux sujets de plus de 80 ans. Si l’on se refere a la classification du consensus francais de 2008, 71 % des patients pouvaient initialement etre classes en DS typiques car le deficit semantique etait multimodal et isole, 11 % en DS atypiques du fait d’une atteinte semantique verbale pure et 18 % en DS atypiques du fait de l’existence de discrets troubles extralinguistiques. Deux ans plus tard, les 6 DS verbales pures etaient devenues multimodales et 28,5 % des DS typiques presentaient des perturbations extralinguistiques. Meme si elle est souvent consideree comme un sous-type d’aphasie progressive, le trouble semantique va au-dela d’un simple trouble linguistique dans la majorite des cas de DS.

Published
2011
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39. La batterie d'évaluation des connaissances sémantiques du GRECO (BECS-GRECO) : validation et données normatives

Author

Danièle Perrier Palisson, François Sellal, Olivier Moreaud, Martine F. Roussel, Valérie Hahn-Barma, Catherine Merck, Florence Mahieux, Sophie Auriacombe, Helgard Kremin, Annik Charnallet, Hervine Siegwart, Béatrice Lemesle, Serge Belliard, Service de Neurologie [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], 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), Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neurology, Centre Hospitalier Régional et Universitaire de Rennes, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), Unité de Neuropsychologie, CHU Grenoble, Service de neurologie, Hôpital pasteur [Colmar], 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
Cognitive Neuroscience, media_common.quotation_subject, 05 social sciences, Art, 050105 experimental psychology, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Neuropsychology and Physiological Psychology, [SCCO.PSYC]Cognitive science/Psychology, 0501 psychology and cognitive sciences, Humanities, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, media_common
Abstract

La memoire semantique est classiquement consideree comme un systeme regroupant les connaissances generales sur le monde dont celles relatives aux objets manufactures ou biologiques. A ce jour, peu d’outils francophones permettent d’evaluer un meme ensemble d’items de facon standardisee et a travers differents formats de presentation. Pourtant, la mise en evidence des troubles plurimodaux est necessaire pour attester une atteinte des connaissances semantiques et non un trouble d’acces modalite-dependant. Dans ce but, la commission GRESEM a elabore une batterie d’evaluation des connaissances semantiques (BECS-GRECO). Cette batterie permet d’evaluer l’integrite de 40 entites (20 biologiques et 20 manufacturees) et de leurs attributs, sous deux formats (mots ecrits et dessins au trait) au moyen de 6 sous-tests. Les normes etablies aupres de 317 participants sains (âges de 20 ans a plus de 75 ans) ont ete presentees sous la forme de scores seuils. La batterie a egalement ete proposee a deux groupes de patients, l’un atteint de demence semantique et l’autre de maladie d’Alzheimer aux stades legers. A l’exception du sous-test d’appariement par identite, ce travail retrouve de bons compromis sensibilite-specificite, et souligne ainsi l’interet clinique de cette batterie pour detecter des atteintes semantiques.

Published
2011
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40. Démence sémantique : réflexions d’un groupe de travail pour des critères de diagnostic en français et la constitution d’une cohorte de patients

Author

Catherine Thomas-Antérion, J. Boutantin, Martine Vercelletto, Frédéric Bernard, N. Le Carret, Valérie Hahn-Barma, Florence Pasquier, Olivier Rouaud, E. Coutant, Danielle David, P. Renou, Julie S. Snowden, Vincent Deramecourt, Y. Gaestel, E. Guichart, M.-E. Virat-Brassaud, Jérémie Pariente, A. Memin, Claire Boutoleau-Bretonnière, E. Lamy, Olivier Moreaud, C. Lebrun-Givois, B. Lebail, Sandrine Basaglia-Pappas, Sophie Auriacombe, Marie Sarazin, Annik Charnallet, Serge Belliard, S. Garnier, B. Lemesle, and L. Bon

Subjects
medicine.medical_specialty, Neuropsychology, Semantic dementia, Frontotemporal lobar degeneration, Audiology, medicine.disease, Developmental psychology, Neurology, Communication disorder, Aphasia, medicine, Semantic memory, Language disorder, Neurology (clinical), medicine.symptom, Psychology, Frontotemporal dementia
Abstract

Semantic dementia (SD) is a syndrome of progressive loss of semantic knowledge for objects and people. International criteria propose that SD be included in the frontotemporal lobar degeneration syndromes, with progressive non-fluent aphasia and frontotemporal dementia (FTD). However, several related syndromes have been defined that clinically and conceptually share both similarities and differences with SD: fluent progressive aphasia, progressive prosopagnosia, temporal variant of FTD. In order to establish a French consensus for the diagnosis and modalities of evaluation and follow-up of SD, a working group, composed of neurologists, neuropsychologists and speech-therapists, was established by the Groupe de reflexion sur les evaluations cognitives (GRECO). New criteria were elaborated, based on clinical, neuropsychological, and imaging data. They define typical and atypical forms of SD. A diagnosis of typical SD relies on an isolated and progressive loss of semantic knowledge, attested by a deficit of word comprehension and a deficit of objects and/or people identification, with imaging showing temporal atrophy and/or hypometabolism. SD is atypical if the deficit of semantic knowledge is present only within a single modality (verbal versus visual), or if non-semantic deficits (mild and not present at onset) and/or neurological signs, are associated with the semantic loss.

Published
2008
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41. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Author

Valérie Hahn-Barma, Bruno Dubois, Jean-Charles Lambert, Dominique Campion, Serge Bakchine, Agnès Camuzat, Christine Van Broeckhoven, Serge Belliard, Michèle Puel, Patrice Verpillat, Eric Guedj, Alexis Brice, Fabienne Clot, Marie-Odile Habert, Isabelle Le Ber, Jacqueline Mikol, Pascal Lejeune, Ftd-Mnd, Julie van der Zee, Mustapha Ghanim, Didier Hannequin, Vincent Deramecourt, Christian Meyrignac, Martine Vercelletto, Anne Rovelet-Lecrux, Florence Pasquier, Lucette Lacomblez, Vincent de La Sayette, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), 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), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Department of Genetics, University Hospital, Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service Central de Biophysique et de Médecine Nucléaire, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre des Maladies Cognitives et Comportementales [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Antwerpen, Université de Reims Champagne-Ardenne (URCA), Neurologie générale et maladies inflammatoires du système nerveux [Toulouse], 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], Fédération des Maladies du Système Nerveux, 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)-Sorbonne Université (SU), Service de pharmacologie médicale [CHU Pitié-Salpêtrière], 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), Service d′Anatomie et de Cytologie Pathologiques [Lariboisiere], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Neuroendocrinologie et physiopathologie neuronale, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Centre Hospitalier Intercommunal, Centre Hospitalier Départemental, Laboratoire de Neuropsychologie, 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), Service de Neurologie [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Clinique neurologique, Hôpital Laennec, Service de neurologie, Epidémiologie des maladies chroniques : impact des interactions gène environnement sur la santé des populations, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Laboratoire d'Imagerie Fonctionnelle (LIF), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-IFR49-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine nucléaire [CHU Pitié-Salpétrière], 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), Centre du Langage et de Neuropsychologie, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-06-MRAR-005-01, ANR, Département de neurologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Université de Rennes (UR), French research Network on FTD/FTD-MND, and Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)

Subjects
Male, Pathology, Neuropsychological Tests, MESH: Epidemiologic Methods, MESH: Aphasia, Primary Progressive, Apraxia, MESH: Magnetic Resonance Imaging, Primary progressive aphasia, Progranulins, MESH: Aged, 80 and over, 0302 clinical medicine, MESH: Motor Neuron Disease, Corticobasal degeneration, Age of Onset, MESH: Brain Mapping, MESH: Heterozygote, Aged, 80 and over, MESH: Aged, Brain Mapping, 0303 health sciences, MESH: Middle Aged, Parkinsonism, Brain, MESH: Neuropsychological Tests, Middle Aged, Magnetic Resonance Imaging, MESH: Dementia, 3. Good health, Phenotype, Disease Progression, Intercellular Signaling Peptides and Proteins, Female, MESH: Disease Progression, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Psychology, Haploinsufficiency, Frontotemporal dementia, Adult, Heterozygote, medicine.medical_specialty, MESH: Mutation, MESH: Age of Onset, MESH: Phenotype, MESH: Brain, 03 medical and health sciences, medicine, Humans, Dementia, Motor Neuron Disease, MESH: Intercellular Signaling Peptides and Proteins, Aged, 030304 developmental biology, MESH: Humans, Lewy body, MESH: Adult, medicine.disease, MESH: Male, MESH: Cognition Disorders, Aphasia, Primary Progressive, Mutation, Neurology (clinical), Cognition Disorders, Epidemiologic Methods, MESH: Female, 030217 neurology & neurosurgery
Abstract

Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a clinically, genetically and pathologically heterogeneous group of diseases. The most recently identified of the four known genes is GRN, associated with 17q-linked FTD with ubiquitin-immunoreactive inclusions. GRN was analysed in 502 probands with frontal variant FTD (fvFTD), FTD with motoneuron disease (FTD-MND), primary progressive aphasia (PPA) and corticobasal degeneration syndrome (CBDS). We studied the clinical, neuropsychological and brain perfusion characteristics of mutation carriers. Eighteen mutations, seven novel were found in 24 families including 32 symptomatic mutation carriers. No copy number variation was found. The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease. Parkinsonism developed in 13/32 (41%), visual hallucinations in 8/32 (25%) and motor apraxia in 5/21 (24%). Constructional disorders were present in 10/21 (48%). Episodic memory disorders were frequent (16/18, 89%), consistent with hippocampal amnestic syndrome in 5/18 (28%). Hypoperfusion was observed in the hippocampus, parietal lobe and posterior cingulate gyrus, as well as the frontotemporal cortices. The frequency of mutations according to phenotype was 5.7% (20/352) in fvFTD, 17.9% (19/106) in familial forms, 4.4% in PPA (3/68), 3.3% in CBDS (1/30). Hallucinations, apraxia and amnestic syndrome may help differentiate GRN mutation carriers from others FTD patients. Variable phenotypes and neuropsychological profiles, as well as brain perfusion profiles associated with GRN mutations may reflect different patterns of neurodegeneration. Since all the mutations cause a progranulin haploinsufficiency, additional factors probably explain the variable clinical presentation of the disease.

Published
2008
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42. Defining the spectrum of frontotemporal dementias associated with TARDBP mutations

Author

Isabelle Le Ber, Agnès Camuzat, Véronique Golfier, John C. van Swieten, Serena Lattante, Serge Belliard, Alexis Brice, Bernard Laurent, Sophie Auriacombe, Stéphanie Millecamps, Bruno Dubois, Lena Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Paola Caroppo, Fabienne Clot, Marc Teichmann, The Foundation 'Carlo Besta' Institute of Neurology ( IRCCS ), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Centre National de la Recherche Scientifique ( CNRS ) -CHU Pitié-Salpêtrière [APHP]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Laboratoire d'Etude des Mécanismes Cognitifs ( EMC ), Université Lumière - Lyon 2 ( UL2 ) -Centre National de la Recherche Scientifique ( CNRS ), Université Lumière - Lyon 2 ( UL2 ), Erasmus Medical Center Rotterdam, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Etude des Mécanismes Cognitifs (EMC), Université Lumière - Lyon 2 (UL2), Erasmus University Medical Center [Rotterdam] (Erasmus MC), 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), and Neurology

Subjects
0301 basic medicine, Proband, Genetic counseling, Settore MED/03 - GENETICA MEDICA, TARDBP, Article, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Genotype, Medicine, Family history, frontotemporal dementias, Genetics (clinical), Genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, medicine.disease, Penetrance, Phenotype, 3. Good health, 030104 developmental biology, Neurology (clinical), business, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract

International audience; Objectives: We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.Methods: The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, were evaluated.Results: The most frequent phenotype was a behavioral variant frontotemporal dementia (bvFTD), but a significant proportion (40%) of our patients had semantic (svFTD) or nonfluent variants (nfvFTD) at onset; and svFTD was significantly more frequent in TARDBP carriers than in other FTD genotypes (p < 0.001). Remarkably, only a minority (40%) of our patients secondarily developed amyotrophic lateral sclerosis (ALS). Two patients carried a homozygous mutation but strikingly different phenotypes (bvFTD and ALS) indicating that homozygosity does not result in a specific phenotype. Earlier age at onset in children than parent's generations, mimicking an apparent “anticipation” (21.8 ± 9.3 years, p = 0.001), and possible reduced penetrance were present in most families.Conclusions: This study enlarges the phenotypic spectrum of TARDBP and will have important clinical implications: (1) FTD can be the only clinical manifestation of TARDBP mutations; (2) Initial language or semantic disorders might be indicative of a specific genotype; (3) Mutations should be searched in all FTD phenotypes after exclusion of major genes, even in the absence of ALS in the proband or in family history; (4) reduced penetrance and clinical variability should be considered to deliver appropriate genetic counseling.

Published
2016
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43. Mechanical problem-solving strategies in Alzheimer’s Disease and Semantic Dementia

Author

Mathieu Lesourd, Olivier Moreaud, Josselin Baumard, Bernard Croisile, Frédérique Etcharry-Bouyx, Serge Belliard, Valérie Chauviré, Marine Granjon, Christophe Jarry, Didier Le Gall, François Osiurak, 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), Université de Nantes (UN)-Université de Nantes (UN), Department of Neurology, Centre Hospitalier Régional et Universitaire de Rennes, 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]), 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), Centre Hospitalier Universitaire d'Angers (CHU Angers), and PRES Université Nantes Angers Le Mans (UNAM)

Subjects
Male, medicine.medical_specialty, Apraxias, MEDLINE, Semantic dementia, Disease, PsycINFO, Semantics, Apraxia, 050105 experimental psychology, Developmental psychology, Task (project management), [SCCO]Cognitive science, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Alzheimer Disease, medicine, Humans, Dementia, 0501 psychology and cognitive sciences, Problem Solving, Aged, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, problem-solving strategies, Alzheimer's disease, Middle Aged, medicine.disease, Neuropsychology and Physiological Psychology, semantic dementia, Frontotemporal Dementia, [SCCO.PSYC]Cognitive science/Psychology, Female, Psychology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

International audience; AbstractOBJECTIVE:The goal of this study was to explore whether the tool-use disorders observed in Alzheimer's disease (AD) and semantic dementia (SD) are of the same nature as those observed in left brain-damaged (LBD) patients. Recent evidence indicates that LBD patients with apraxia of tool use encounter difficulties in solving mechanical problems, characterized by the absence of specific strategies. This pattern may show the presence of impaired mechanical knowledge, critical for both familiar and novel tool use. So, we explored the strategies followed by AD and SD patients in mechanical problem-solving tasks in order to determine whether mechanical knowledge is also impaired in these patients.METHOD:We used a mechanical problem-solving task in both choice (i.e., several tools were proposed) and no-choice (i.e., only 1 tool was proposed) conditions. We analyzed quantitative data and strategy profiles.RESULTS:AD patients but not SD patients met difficulties in solving mechanical problem-solving tasks. However, the key finding is that AD patients, despite their difficulties, showed strategy profiles that are similar to that of SD patients or controls. Moreover, AD patients exhibited a strategy profile distinct from the one previously observed in LBD patients.CONCLUSIONS:Those observations lead us to consider that difficulties met by AD patients to solve mechanical problems or even to use familiar tools may not be caused by mechanical knowledge impairment per se. In broad terms, what we call apraxia of tool use in AD is certainly not the same as apraxia of tool use observed in LBD patients. (PsycINFO Database Record

Published
2016
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44. P2‐137: Direct comparisons between atrophy and hypometabolism in semantic dementia and Alzheimer's disease suggest distinct neuropathological processes

Author

Alexandre Bejanin, Francis Eustache, Brigitte Landeau, Serge Belliard, Vincent Sayette, Béatrice Desgranges, and Gaël Chételat

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2015
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45. IC‐P‐053: Common medial temporal lobe atrophy associated with distinct structural connectivity injuries in semantic dementia and Alzheimer disease

Author

Brigitte Landeau, Catherine Merck, Francis Eustache, Béatrice Desgranges, Audrey Perrotin, Vincent de la Sayette, Gaël Chételat, Serge Belliard, Renaud La Joie, Alexandre Bejanin, and Florence Mézenge

Subjects
Epidemiology, business.industry, Health Policy, Medial temporal atrophy, Semantic dementia, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, Alzheimer's disease, business, Neuroscience
Published
2015
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46. O2‐10‐01: Common medial temporal lobe atrophy associated with distinct structural connectivity injuries in semantic dementia and Alzheimer disease

Author

Alexandre Bejanin, Béatrice Desgranges, Renaud Joie, Brigitte Landeau, Audrey Perrotin, Florence Mézenge, Catherine Merck, Serge Belliard, Vincent Sayette, Francis Eustache, and Gaël Chételat

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology
Published
2015
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47. P3‐140: Age differences in the association of white matter lesions with the occurrence of dementia: The memento cohort

Author

Marie Chupin, Mathilde Sauvée, François Sellal, Martine Vercelletto, Olivier Rouaud, Grégory Operto, Mathieu Ceccaldi, Sophie Auriacombe, Jean-François Mangin, Catherine Belin, Pierre Krolak Salmon, Geneviève Chêne, Olivier Hanon, Helen Savarieau, Catherine Thomas-Antérion, Renaud David, Jacques Hugon, David Wallon, Isabelle Rouch, Olivier Godefroy, Isabelle Jalenques, Marc Paccalin, Florence Pasquier, Bruno Dubois, Pierre Vandel, Serge Belliard, Carole Dufouil, Armelle Gentric, Audrey Gabelle, Athanase Benetos, Ludovic Fillon, Frédéric Blanc, Caroline Hommet, Vincent Bouteloup, Pierre Jean Ousset, and Olivier Beauchet

Subjects
medicine.medical_specialty, Age differences, Epidemiology, business.industry, Health Policy, medicine.disease, Hyperintensity, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Internal medicine, Cohort, medicine, Dementia, Neurology (clinical), Geriatrics and Gerontology, Association (psychology), business
Published
2015
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48. De la psychométrie au handicap neuropsychologique dans la sclérose en plaques. Proposition d’une batterie de dépistage en langue française et facteurs de risque cognitifs

Author

Cécile Chevrier, E. Sartori, Gilles Edan, J. Chaperon, P. Trebon, and Serge Belliard

Subjects
medicine.medical_specialty, Physical disability, Psychometrics, business.industry, Multiple sclerosis, 05 social sciences, Neuropsychology, Cognition, medicine.disease, 050105 experimental psychology, 3. Good health, Central nervous system disease, 03 medical and health sciences, 0302 clinical medicine, Neurology, medicine, 0501 psychology and cognitive sciences, Neurology (clinical), Risk factor, medicine.symptom, business, Psychiatry, 030217 neurology & neurosurgery, Cognitive deficit
Abstract

INTRODUCTION: Cognitive deficit in multiple sclerosis (MS) is a frequent early feature in the disease course, which conditions patients' overall disability. The goals of this study were to validate a reproducible brief screening battery written in French and to examine cognitive risk profiles in patients with a mild physical disability. METHODS: Cognitive performances of 40 patients with EDSS 40 years, pathological laughing-crying, unemployment. CONCLUSIONS: Our brief battery is an easy and reproducible tool. Completed with warning signs indicating the need for neuropsychological screening, this tool provides the practitioner with a global means of assessing disease activity and potentially therapeutic efficacy.

Published
2006
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49. Autobiographical memory and autonoetic consciousness: triple dissociation in neurodegenerative diseases

Author

C. Lalevée, Francis Eustache, Vincent de La Sayette, Vanessa Matuszewski, Serge Belliard, Pascale Piolino, and Béatrice Desgranges

Subjects
Aged, 80 and over, Analysis of Variance, Language Disorders, Autobiographical memory, Long-term memory, Neurodegenerative Diseases, Autonoetic consciousness, Middle Aged, Neuropsychological Tests, Self Concept, Childhood amnesia, Alzheimer Disease, Source amnesia, Case-Control Studies, Explicit memory, Humans, Semantic memory, Dementia, Amnesia, Neurology (clinical), Psychology, Episodic memory, Aged, Cognitive psychology
Abstract

Few studies have investigated autobiographical amnesia in neurodegenerative diseases and yet these pathologies are particularly relevant when addressing the issue of theories of long-term memory consolidation. According to the standard model, the medial temporal lobe (MTL) is involved in the storage and retrieval of episodic and semantic memories during a limited period of years. An alternative model, the multiple trace theory (MTT), suggests that the capacity of the MTL to recollect episodic memories is of a more permanent nature. In order to test these models, we studied three groups of patients with a neurodegenerative disease predominantly affecting different cerebral structures namely the MTL (13 patients in the early stages of Alzheimer's disease) and the neocortex involving either the anterior temporal lobe (10 patients with semantic dementia) or the frontal lobe (15 patients with the frontal variant of frontotemporal dementia, fv-FTD). We compared these groups of patients with control subjects using an original and reliable autobiographical memory task designed specially to assess strictly episodic memory over the entire lifespan. This task, developed on the basis of the most up-to-date definition of episodic memory, takes into account the ability to mentally travel back in time and re-experience the source of acquisition (remembering, i.e. autonoetic consciousness) via the remember/know paradigm. All three groups of patients produced strongly contrasting profiles of autobiographical amnesia (regardless of the nature of the memories), which also differed markedly from that of the control group: temporally graded memory loss in Alzheimer's disease, showing that remote memories are better preserved than recent ones; memory loss with a reversed gradient in semantic dementia; and memory loss without any clear gradient in fv-FTD. Most strictly episodic memories (i.e. unique, specific in time and space, and detailed) were impaired, whatever the time interval considered in the three groups, though the memory loss was ungraded in Alzheimer's disease and fv-FTD, and temporally graded in semantic dementia, sparing the most recent period. A deficit of autonoetic consciousness emerged in Alzheimer's disease and fv-FTD, but not in semantic dementia, though beyond the most recent 12-month period, the latter group could not justify their subjective sense of remembering to the same extent as the controls, in terms of the actual contextual information retrieved-phenomenological, spatial or temporal details. Our results demonstrate that autobiographical amnesia varies according to the nature of the memories under consideration and the locus of cerebral dysfunction. They are discussed in the light of the two competing models of long-term memory consolidation and recent conceptions of autobiographical recollection: new insights based on current concepts of episodic memories challenge the standard model and tend to support the MTT instead.

Published
2003
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50. Drug therapy of frontotemporal dementia

Author

Hervé Allain, Serge Belliard, Olivier Tribut, Danièle Bentué-Ferrer, and Marc Mérienne

Subjects
Monoamine oxidase, Parkinsonism, Hyperphosphorylation, Gene mutation, medicine.disease, Serotonergic, Chromosome 17 (human), Psychiatry and Mental health, Neurochemical, Neurology, mental disorders, medicine, Pharmacology (medical), Neurology (clinical), Psychology, Neuroscience, Frontotemporal dementia
Abstract

Frontal lobe dementia, or more generally frontotemporal dementia (FTD), includes several clinical entities and, although highly prevalent, lacks any codified therapeutic strategy. The present review is an attempt to depict the main neurochemical correlates of FTD and, as a consequence, to propose the most sound targets for symptomatic drugs. Large scale double-blind controlled clinical trials should be carried out to test any hypothesis: serotonergic agents, glutamate neurotransmission enhancers, monoamine oxidase inhibitors. The recent discovery of tau gene mutations in FTD with Parkinsonism linked to chromosome 17 has reinforced the direct role attributed to abnormal tau proteins (hyperphosphorylation) and thus raised the possibility to target specifically these processes by drugs (aetiopathogenic compounds).

Published
2003
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