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2. Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening

Author

Nicolas, Gaël, Zaréa, Aline, Lacour, Morgane, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Bonnevalle, Antoine, Schramm, Catherine, Olaso, Robert, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Andriuta, Daniela, Anthony, Pierre, Auriacombe, Sophie, Balageas, Anna-Chloé, Ballan, Guillaume, Barbay, Mélanie, Béjot, Yannick, Belliard, Serge, Benaiteau, Marie, Bennys, Karim, Bombois, Stéphanie, Boutoleau-Bretonnière, Claire, Branger, Pierre, Carlier, Jasmine, Cartz-Piver, Leslie, Cassagnaud, Pascaline, Ceccaldi, Mathieu-Pierre, Chauviré, Valérie, Chen, Yaohua, Cogez, Julien, Cognat, Emmanuel, Contegal-Callier, Fabienne, Corneille, Léa, Couratier, Philippe, Cretin, Benjamin, Crinquette, Charlotte, Dauriat, Benjamin, Dautricourt, Sophie, de la Sayette, Vincent, de Liège, Astrid, Deffond, Didier, Demurger, Florence, Deramecourt, Vincent, Derollez, Céline, Dionet, Elsa, Doco Fenzy, Martine, Dumurgier, Julien, Dutray, Anaïs, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gabelle, Audrey, Gainche-Salmon, Anne, Godefroy, Olivier, Graber, Mathilde, Gregoire, Chloé, Grimaldi, Stephan, Gueniat, Julien, Gueriot, Claude, Guillet-Pichon, Virginie, Haffen, Sophie, Hanta, Cezara-Roxana, Hardy, Clémence, Hautecloque, Geoffroy, Heitz, Camille, Hourregue, Claire, Jonveaux, Thérèse, Jurici, Snejana, Koric, Lejla, Krolak-Salmon, Pierre, Lagarde, Julien, Lanoiselée, Hélène-Marie, Laurens, Brice, Le Ber, Isabelle, Le Guyader, Gwenaël, Leblanc, Amélie, Lebouvier, Thibaud, Levy, Richard, Lippi, Anaïs, Mackowiak, Marie-Anne, Magnin, Eloi, Marelli, Cecilia, Martinaud, Olivier, Maureille, Aurelien, Migliaccio, Raffaella, Milongo-Rigal, Emilie, Mohr, Sophie, Mollion, Hélène, Morin, Alexandre, Nivelle, Julia, Noiray, Camille, Olivieri, Pauline, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Perron, Alexandre, Philippi, Nathalie, Planche, Vincent, Pouclet-Courtemanche, Hélène, Rafiq, Marie, Rollin-Sillaire, Adeline, Roué-Jagot, Carole, Saracino, Dario, Sarazin, Marie, Sauvée, Mathilde, Sellal, François, Teichmann, Marc, Thauvin, Christel, Thomas, Quentin, Tisserand, Camille, Turpinat, Cédric, Van Damme, Laurène, Vercruysse, Olivier, Villain, Nicolas, Wagemann, Nathalie, Charbonnier, Camille, and Wallon, David

Published
2024
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3. Phenotype and imaging features associated with APP duplications

Author

Grangeon, Lou, Charbonnier, Camille, Zarea, Aline, Rousseau, Stephane, Rovelet-Lecrux, Anne, Bendetowicz, David, Lemaitre, Marion, Malrain, Cécile, Quillard-Muraine, Muriel, Cassinari, Kevin, Maltete, David, Pariente, Jeremie, Moreaud, Olivier, Magnin, Eloi, Cretin, Benjamin, Mackowiak, Marie-Anne, Sillaire, Adeline Rollin, Vercelletto, Martine, Dionet, Elsa, Felician, Olivier, Rod-Olivieri, Pauline, Thomas-Antérion, Catherine, Godeneche, Gaelle, Sauvée, Mathilde, Cartz-Piver, Leslie, Le Ber, Isabelle, Chauvire, Valérie, Jonveaux, Therèse, Balageas, Anna-Chloé, Laquerriere, Annie, Duyckaerts, Charles, Vital, Anne, de Paula, Andre Maues, Meyronet, David, Guyant-Marechal, Lucie, Hannequin, Didier, Tournier-Lasserve, Elisabeth, Campion, Dominique, Nicolas, Gaël, and Wallon, David

Published
2023
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5. Prodromal characteristics of dementia with Lewy bodies: baseline results of the MEMENTO memory clinics nationwide cohort

Author

Blanc, Frederic, Bouteloup, Vincent, Paquet, Claire, Chupin, Marie, Pasquier, Florence, Gabelle, Audrey, Ceccaldi, Mathieu, de Sousa, Paulo Loureiro, Krolak-Salmon, Pierre, David, Renaud, Fischer, Clara, Dartigues, Jean-François, Wallon, David, Moreaud, Olivier, Sauvée, Mathilde, Belin, Catherine, Harston, Sandrine, Botzung, Anne, Albasser, Timothée, Demuynck, Catherine, Namer, Izzie, Habert, Marie-Odile, Kremer, Stéphane, Bousiges, Olivier, Verny, Marc, Muller, Candice, Philippi, Nathalie, Chene, Geneviève, Cretin, Benjamin, Mangin, Jean-François, and Dufouil, Carole

Published
2022
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7. Added value of 18F-florbetaben amyloid PET in the diagnostic workup of most complex patients with dementia in France: A naturalistic study

Author

Ceccaldi, Mathieu, Guedj, Eric, Felician, Olivier, Didic, Mira, Gueriot, Claude, Koric, Lejla, Kletchkova-Gantchev, Radka, Godefroy, Olivier, Andriuta, Daniela, Devendeville, Agnès, Dupuis, Diane, Binot, Ingrid, Barbay, Mélanie, Meyer, Marc-Etienne, Moullard, Véronique, Magnin, Eloi, Chamard, Ludivine, Haffen, Sophie, Morel, Olivier, Drouet, Clément, Boulahdour, Hatem, Goas, Philippe, Querellou-Lefranc, Solène, de la Sayette, Vincent, Cogez, Julien, Branger, Pierre, Agostini, Denis, Manrique, Alain, Rouaud, Olivier, Bejot, Yannick, Jacquin-Piques, Agnès, Dygai-Cochet, Inna, Berriolo-Riedinger, Alina, Moreaud, Olivier, Sauvee, Mathilde, Crépin, Céline Gallazzani, Pasquier, Florence, Bombois, Stéphanie, Lebouvier, Thibaud, Mackowiak-Cordoliani, Marie-Anne, Deramecourt, Vincent, Rollin-Sillaire, Adeline, Cassagnaud-Thuillet, Pascaline, Chen, Yaohua, Semah, Franck, Petyt, Grégory, Krolak-Salmon, Pierre, Federico, Denis, Danaila, Keren Liora, Guilhermet, Yves, Magnier, Christophe, Makaroff, Zaza, Rouch, Isabelle, Xie, Jing, Roubaud, Caroline, Coste, Marie-Hélène, David, Kenny, Sarciron, Alain, Waissi, Aziza Sediq, Scheiber, Christian, Houzard, Claire, Gabelle-Deloustal, Audrey, Bennys, Karim, Marelli, Cecilia, Touati, Lynda, Mariano-Goulart, Denis, de Verbizier-Lonjon, Delphine, Jonveaux, Thérèse, Benetos, Athanase, Kearney-Schwartz, Anna, Perret-Guillaume, Christine, Verger, Antoine, Vercelletto, Martine, Boutoleau-Bretonniere, Claire, Pouclet-Courtemanche, Hélène, Wagemann, Nathalie, Pallardy, Amandine, Hugon, Jacques, Paquet, Claire, Dumurgier, Julien, Millet, Pascal, Queneau, Mathieu, Dubois, Bruno, Epelbaum, Stéphane, Levy, Marcel, Habert, Marie-Odile, Novella, Jean-Luc, Jaidi, Yacine, Papathanassiou, Dimitri, Morland, David, Belliard, Serge, Salmon, Anne, Lejeune, Florence, Hannequin, Didier, Wallon, David, Martinaud, Olivier, Zarea, Aline, Chastan, Mathieu, Pariente, Jérémie, Thalamas, Claire, Galitzky-Gerber, Monique, Tricoire Ricard, Anne-Marie, Calvas, Fabienne, Rigal, Emilie, Payoux, Pierre, Hitzel, Anne, Delrieu, Julien, Ousset, Pierre-Jean, Lala, Françoise, Sastre-Hengan, Nathalie, Shields, Trevor, Perrotin, Audrey, Gismondi, Rossella, Bullich, Santiago, Jovalekic, Aleksandar, Raffa, Nicola, and Stephens, Andrew

Published
2018
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8. Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

Author

Sellami, Leila, Rucheton, Benoît, Ben Younes, Imen, Camuzat, Agnès, Saracino, Dario, Rinaldi, Daisy, Epelbaum, Stephane, Azuar, Carole, Levy, Richard, Auriacombe, Sophie, Hannequin, Didier, Pariente, Jérémie, Barbier, Mathieu, Boutoleau-Bretonnière, Claire, Couratier, Philippe, Pasquier, Florence, Deramecourt, Vincent, Sauvée, Mathilde, Sarazin, Marie, Lagarde, Julien, Roué-Jagot, Carole, Forlani, Sylvie, Jornea, Ludmila, David, Isabelle, LeGuern, Eric, Dubois, Bruno, Brice, Alexis, Clot, Fabienne, Lamari, Foudil, and Le Ber, Isabelle

Published
2020
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10. Associations among hypertension, dementia biomarkers, and cognition: The MEMENTO cohort.

Author

Lespinasse, Jérémie, Chêne, Geneviève, Mangin, Jean‐Francois, Dubois, Bruno, Blanc, Frederic, Paquet, Claire, Hanon, Olivier, Planche, Vincent, Gabelle, Audrey, Ceccaldi, Mathieu, Annweiler, Cedric, Krolak‐Salmon, Pierre, Godefroy, Olivier, Wallon, David, Sauvée, Mathilde, Bergeret, Sébastien, Chupin, Marie, Proust‐Lima, Cécile, and Dufouil, Carole

Abstract

Introduction: Approximately 40% of dementia cases could be delayed or prevented acting on modifiable risk factors including hypertension. However, the mechanisms underlying the hypertension–dementia association are still poorly understood. Methods: We conducted a cross‐sectional analysis in 2048 patients from the MEMENTO cohort, a French multicenter clinic‐based study of outpatients with either isolated cognitive complaints or mild cognitive impairment. Exposure to hypertension was defined as a combination of high blood pressure (BP) status and antihypertensive treatment intake. Pathway associations were examined through structural equation modeling integrating extensive collection of neuroimaging biomarkers and clinical data. Results: Participants treated with high BP had significantly lower cognition compared to the others. This association was mediated by higher neurodegeneration and higher white matter hyperintensities load but not by Alzheimer's disease (AD) biomarkers. Discussion: These results highlight the importance of controlling hypertension for prevention of cognitive decline and offer new insights on mechanisms underlying the hypertension–dementia association. Highlights: Paths of hypertension–cognition association were assessed by structural equation models.The hypertension–cognition association is not mediated by Alzheimer's disease biomarkers.The hypertension–cognition association is mediated by neurodegeneration and leukoaraiosis.Lower cognition was limited to participants treated with uncontrolled blood pressure.Blood pressure control could contribute to promote healthier brain aging. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Author

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

Published
2017
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13. Prodromal characteristics of Dementia with Lewy Bodies: baseline results of the Memento nationwide cohort

Author

Blanc, Frederic, primary, Bouteloup, Vincent, additional, Paquet, Claire, additional, Chupin, Marie, additional, Pasquier, Florence, additional, Gabelle, Audrey, additional, Ceccaldi, Mathieu, additional, Sousa, Paulo Loureiro, additional, Krolak-Salmon, Pierre, additional, David, Renaud, additional, Fischer, Clara, additional, Dartigues, Jean-François, additional, Wallon, David, additional, Moreaud, Olivier, additional, Sauvée, Mathilde, additional, Belin, Catherine, additional, Harston, Sandrine, additional, Botzung, Anne, additional, Albasser, Timothée, additional, Demuynck, Catherine, additional, Namer, Izzie, additional, Habert, Marie-Odile, additional, Kremer, Stéphane, additional, Bousiges, Olivier, additional, Verny, Marc, additional, Muller, Candice, additional, Philippi, Nathalie, additional, Chene, Geneviève, additional, Cretin, Benjamin, additional, Mangin, Jean-François, additional, and Dufouil, Carole, additional

Published
2022
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14. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

Author

Nicolas, Gaël, Pottier, Cyril, Charbonnier, Camille, Guyant-Maréchal, Lucie, Le Ber, Isabelle, Pariente, Jérémie, Labauge, Pierre, Ayrignac, Xavier, Defebvre, Luc, Maltête, David, Martinaud, Olivier, Lefaucheur, Romain, Guillin, Olivier, Wallon, David, Chaumette, Boris, Rondepierre, Philippe, Derache, Nathalie, Fromager, Guillaume, Schaeffer, Stéphane, Krystkowiak, Pierre, Verny, Christophe, Jurici, Snejana, Sauvée, Mathilde, Vérin, Marc, Lebouvier, Thibaud, Rouaud, Olivier, Thauvin-Robinet, Christel, Rousseau, Stéphane, Rovelet-Lecrux, Anne, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Ahtoy, Patrick, Anheim, Mathieu, Augustin, Jérôme, Ayrignac, Xavier, Bille-Turc, Françoise, Campion, Dominique, Chaumette, Boris, Clanet, Michel, Defebvre, Luc, Defer, Gilles, Derache, Nathalie, Didic, Mira, Durif, Franck, Flamand-Roze, Emmanuel, Fromager, Guillaume, Giroud, Maurice, Goldenberg, Alice, Guillin, Olivier, Guyant-Maréchal, Lucie, Hannequin, Didier, Hubsch, Cécile, Jurici, Snejana, Krystkowiak, Pierre, Labauge, Pierre, Layet, Antoine, Le Ber, Isabelle, Lebouvier, Thibaud, Lefaucheur, Romain, Maltête, David, Morcamp, Olivier Martinaud Donald, Nicolas, Gaël, Ozkul, Ozlem, Pariente, Jérémie, Pottier, Cyril, Rondepierre, Philippe, Rouaud, Olivier, Sallé, Brigitte, Sauvée, Mathilde, Schaeffer, Stéphane, Thauvin-Robinet, Christel, Thomas-Antérion, Catherine, Tranchant, Christine, Triquenot, Aude, Vaschalde, Yvan, Vérin, Marc, Verny, Christophe, Vidailhet, Marie, and Wallon, David

Published
2013
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15. Neurodevelopmental disorders modify neurodegenerative diseases: a medical history to screen in memory clinic

Author

Magnin, Eloi, additional, Monnin, Julie, additional, Chokron, Sylvie, additional, Mouton, Servane, additional, Antérion, Catherine Thomas, additional, Basaglia-Pappas, Sandrine, additional, Pisella, Laure, additional, Bernard, Isabelle, additional, Martinaud, Olivier, additional, Sauvée, Mathilde, additional, Richard-Mornas, Aurélie, additional, and Ryff, Ilham, additional

Published
2021
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16. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Author

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

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

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

Published
2017
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18. Dementia with Lewy bodies: Characteristics of the prodromal stage in a nationwide longitudinal cohort

Author

Blanc, Frédéric, primary, Bouteloup, Vincent, additional, Paquet, Claire, additional, Chupin, Marie, additional, Pasquier, Florence, additional, Gabelle, Audrey, additional, Ceccaldi, Mathieu, additional, Sousa, Paulo Loureiro, additional, Salmon, Pierre Krolak, additional, David, Renaud, additional, Fischer, Clara, additional, Dartigues, Jean‐François, additional, Wallon, David, additional, Sauvée, Mathilde, additional, Moreaud, Olivier, additional, Belin, Catherine, additional, Botzung, Anne, additional, Albasser, Timothee, additional, Demuynck, Catherine, additional, Namer, Izzie, additional, Habert, Marie‐Odile, additional, Kremer, Stephane, additional, Bousiges, Olivier, additional, Martin‐Hunyadi, Catherine, additional, Philippi, Nathalie, additional, Chêne, Geneviève, additional, Cretin, Benjamin, additional, Mangin, Jean‐Francois, additional, and Dufouil, Carole, additional

Published
2020
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19. Is emotional attention a behavioral marker of amygdala alterations in alzheimer’s disease ?

Author

Bourgin, Jessica, Silvert, Laetitia, Cousin, Émilie, Pichat, Cédric, Moreaud, Olivier, Sauvée, Mathilde, Hot, Pascal, 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]), Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Centre Mémoire de Ressources et de Recherche [Grenoble] (CMRR), Centre Hospitalier Universitaire [Grenoble] (CHU), Institut Universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.), ESCoP, ULL, Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), and LAPSCO, HAL

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

International audience; The amygdala, a limbic area crucial in potentiating emotional processing, is atrophied early in Alzheimer’s disease(AD). Yet, the consequences of amygdala alterations on theprocessing of emotional information in patients with ADare still scarcely investigated. Recent behavioral and neuroimaging data suggest that emotional attention may be apromising way of investigation. In this study, we were interested in assessing the link between amygdala structuraland functional alterations and automatic emotional attention toward salient features of faces. Based on previous reports in patients with amygdala lesions, we also investigated the existence of compensatory processes relying onfrontal networks and allowing the preservation of morecontrolled emotional attention mechanisms. Preliminaryresults will be discussed.

Published
2019

20. Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Author

Grangeon, Lou, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Budowski, Clara, Corbillé, Anne-Gaëlle, Antoine, Jean-Christophe, Clanet, Michel, Rovelet-Lecrux, Anne, Boland, Anne, Deleuze, Jean-François, Favrole, Pascal, Verny, Christophe, Krystkowiak, Pierre, Chamard, Ludivine, Moutton, Sébastien, Goizet, Cyril, Ferec, Claude, Timsit, Serge, Schaeffer, Stéphane, Derache, Nathalie, Defer, Gilles, Durif, Franck, Sellal, François, Rouaud, Olivier, Thauvin-Robinet, Christel, Cubizolle, Stéphanie, Sauvée, Mathilde, Leblanc, Amélie, Demas, Alexis, POISSON, Alice, Tournier-Lasserve, Elisabeth, Hervé, Dominique, Chabriat, Hugues, Grolez, Guillaume, Carrière, Nicolas, Defebvre, Luc, Lebouvier, Thibaud, Witjas, Tatiana, Azulay, Jean-Philippe, Fluchère, Frédérique, Didic, Mira, Nguyen, Karine, Charif, Mahmoud, Ayrignac, Xavier, Labauge, Pierre, Lionnet, Caroline, Marelli-Tosi, Cecilia, GAUD, Simon, Rouaud, Tiphaine, Laurens, Brice, Folgoas, Emmanuelle, Isidor, Bertrand, Chiesa, Jean, Pallix-Guyot, Maud, Gaillard, Nicolas, Olivier, Nadège, Jurici, Snejana, Marey, Isabelle, Charles, Perrine, Ewenczyck, Claire, Dürr, Alexandra, Hubsch, Cécile, Méneret, Aurélie, Vidailhet, Marie, Nadjar, Yann, Le Ber, Isabelle, Grabli, David, Roze, Emmanuel, Navarro, Vincent, Mecharles-Darrigol, Sylvie, Lagarde, Julien, Sarazin, Marie, Vérin, Marc, Lefaucheur, Romain, Maltête, David, Wallon, David, Martinaud, Olivier, Guyant-Maréchal, Lucie, Richard, Anne-claire, Guillin, Olivier, Yger, Marion, Anheim, Mathieu, Renaud, Mathilde, Tranchant, Christine, Rudolf, Gabrielle, Cretin, Benjamin, Mallaret, Martial, Pariente, Jérémie, Ory-Magne, Fabienne, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut du Fer à Moulin, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Neurologie, CHU Saint-Etienne-Hôpital Bellevue, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Biologie Neurovasculaire Intégrée (BNVI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Service de neurochirurgie générale et stéréotaxique fonctionnelle, Hôpital Roger Salengro-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Mémoire de Ressources et de Recherche - CMRR [Besançon] (CMRR), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de neurologie, Hôpital Gabriel Montpied, Hôpital pasteur [Colmar], Université Montpellier 1 (UM1)-Hôpital Guy de Chauliac-Centre Mémoire Ressources Recherche Languedoc - Roussillon, Centre Hospitalier Universitaire [Grenoble] (CHU), Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229 (CNC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Genetique des Maladies Vasculaires, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gouvernance, Risque, Environnement, Développement (GRED), Université Paul-Valéry - Montpellier 3 (UM3)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de neurologie et pathologie du mouvement, Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Troubles cognitifs dégénératifs et vasculaires (U1171), INSERM-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Neuropathies du système nerveux entérique et pathologies digestives, implication des cellules gliales entériques, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), 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), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Université de Lorraine (UL), Service de neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Bordeaux (UB), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Centre Hospitalier Régional d'Orléans (CHR), Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Pitié-Salpêtrière [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Fédération des Maladies du Système Nerveux, Laboratoire de neurosciences cognitives et d'imagerie cérébrale (LENA), Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Efficience Déficience Motrice [Montpellier] (EDM), Université Montpellier 1 (UM1), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU), Service des Urgences Cérébro-Vasculaires [CHU Pitié-Salpêtrière]], CHU Pitié-Salpêtrière [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Strasbourg, Département de Neurologie, CHU Strasbourg-Hopital Civil, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et nanosciences d'Alsace, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Université de Strasbourg (UNISTRA), Imagerie cérébrale et handicaps neurologiques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-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)-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CIC Toulouse, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Département de neurologie [Lille], Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], 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), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Aix-en-Provence], Centre Hospitalier du Pays d'Aix, Service de Neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), 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), Neurologie Vasculaire [Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Différenciation et communication neuronale et neuroendocrine (DC2N), Institut de Biologie François JACOB (JACOB), 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), ANR-17-CE14-0008,CALCIPHOS,ROLE DE L'EXPORTATEUR DE PHOSPHATE DANS LA CALCIFICATION VASCULAIRE(2017), Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Laboratoire de Neurosciences Fonctionnelles et Pathologies, Hôpital Roger Salengro-PRES Université Lille Nord de France-EA 4559/1046-Université de Lille, Droit et Santé, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), and Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)

Subjects
0301 basic medicine, Proband, Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Glycoside Hydrolases, [SDV]Life Sciences [q-bio], PDGFRB, medicine.disease_cause, Nervous System Malformations, MESH: phenotype, computed tomography, mutation, genes, pons, brain, autosomal recessive inheritance, cerebellar atrophy, calcification, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Mutation, Brain Diseases, PDGFB, business.industry, Brain, Calcinosis, Middle Aged, medicine.disease, Penetrance, 3. Good health, Pedigree, 030104 developmental biology, Phenotype, Cerebellar atrophy, Female, Neurology (clinical), Age of onset, business, Xenotropic and Polytropic Retrovirus Receptor, 030217 neurology & neurosurgery, Calcification
Abstract

International audience; Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or novel predicted damaging variant. We studied the clinical and radiological features of 16 patients of these 11 families and compared them to that of 102 autosomal dominant PFBC patients carrying a mutation in one of the four known autosomal dominant PFBC genes. We found that MYORG patients exhibited a high clinical penetrance with a median age of onset of 52 years (range: 21–62) with motor impairment at the forefront. In particular, dysarthria was the presenting sign in 11/16 patients. In contrast to patients with autosomal dominant PFBC, 12/15 (80%) symptomatic patients eventually presented at least four of the following five symptoms: dysarthria, cerebellar syndrome, gait disorder of any origin, akinetic-hypertonic syndrome and pyramidal signs. In addition to the most severe clinical pattern, MYORG patients exhibited the most severe pattern of calcifications as compared to the patients from the four autosomal dominant PFBC gene categories. Strikingly, 12/15 presented with brainstem calcifications in addition to extensive calcifications in other brain areas (lenticular nuclei, thalamus, cerebellar hemispheres, vermis, ±cortex). Among them, eight patients exhibited pontine calcifications, which were observed in none of the autosomal dominant PFBC patients and hence appeared to be highly specific. Finally, all patients exhibited cerebellar atrophy with diverse degrees of severity on CT scans. We confirmed the existence of cerebellar atrophy by performing MRI voxel-based morphometry analyses of MYORG patients with autosomal dominant PFBC mutation carriers as a comparison group. Of note, in three families, the father carried small pallido-dentate calcifications while carrying the mutation at the heterozygous state, suggesting a putative phenotypic expression in some heterozygous carriers. In conclusion, we confirm that MYORG is a novel major PFBC causative gene and that the phenotype associated with such mutations may be recognized based on pedigree, clinical and radiological features.

Published
2019
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21. Plasma NfL levels and longitudinal change rates in and -associated diseases: from tailored references to clinical applications.

Author

Saracino, Dario, Dorgham, Karim, Camuzat, Agnès, Rinaldi, Daisy, Rametti-Lacroux, Armelle, Houot, Marion, Clot, Fabienne, Martin-Hardy, Philippe, Jornea, Ludmila, Azuar, Carole, Migliaccio, Raffaella, Pasquier, Florence, Couratier, Philippe, Auriacombe, Sophie, Sauvée, Mathilde, Boutoleau-Bretonnière, Claire, Pariente, Jérémie, Didic, Mira, Hannequin, Didier, and Wallon, David

Subjects
CLINICAL medicine, AMYOTROPHIC lateral sclerosis, CARDIAC amyloidosis, FRONTOTEMPORAL dementia, FRONTOTEMPORAL lobar degeneration, PROGNOSIS, SINGLE molecules, DISEASE progression, RESEARCH, NERVE tissue proteins, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies
Abstract

Objective: Neurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in C9orf72 and GRN cohorts from presymptomatic to clinical stages.Methods: We analysed pNfL using Single Molecule Array (SiMoA) in 668 samples (352 baseline and 316 follow-up) of C9orf72 and GRN patients, presymptomatic carriers (PS) and controls aged between 21 and 83. They were longitudinally evaluated over a period of >2 years, during which four PS became prodromal/symptomatic. Associations between pNfL and clinical-genetic variables, and longitudinal NfL changes, were investigated using generalised and linear mixed-effects models. Optimal cut-offs were determined using the Youden Index.Results: pNfL levels increased with age in controls, from ~5 to~18 pg/mL (p<0.0001), progressing over time (mean annualised rate of change (ARC): +3.9%/year, p<0.0001). Patients displayed higher levels and greater longitudinal progression (ARC: +26.7%, p<0.0001), with gene-specific trajectories. GRN patients had higher levels than C9orf72 (86.21 vs 39.49 pg/mL, p=0.014), and greater progression rates (ARC:+29.3% vs +24.7%; p=0.016). In C9orf72 patients, levels were associated with the phenotype (ALS: 71.76 pg/mL, FTD: 37.16, psychiatric: 15.3; p=0.003) and remarkably lower in slowly progressive patients (24.11, ARC: +2.5%; p=0.05). Mean ARC was +3.2% in PS and +7.3% in prodromal carriers. We proposed gene-specific cut-offs differentiating patients from controls by decades.Conclusions: This study highlights the importance of gene-specific and age-specific references for clinical and therapeutic trials in genetic FTD/ALS. It supports the usefulness of repeating pNfL measurements and considering ARC as a prognostic marker of disease progression.Trial Registration Numbers: NCT02590276 and NCT04014673. [ABSTRACT FROM AUTHOR]

Published
2021
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23. Impact of emotionally negative information on engagement and disengagement processes in aging: a visual search paradigm in eye-tracking

Author

Bourgin, Jessica, Morand, Alexandrine, Cronenberger, Léna, Hajjam, Nidal, Sauvée, Mathilde, Moreaud, Olivier, Silvert, Laetitia, Hot, Pascal, 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]), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), and LAPSCO, HAL

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

International audience

Published
2018

25. Les troubles neurodéveloppementaux miment ou influencent les pathologies neurodégénératives : prise en compte des antécédents neurodéveloppementaux en consultation mémoire.

Author

Magnin, Eloi, Monnin, Julie, Chokron, Sylvie, Mouton, Servane, Antérion, Catherine Thomas, Basaglia-Pappas, Sandrine, Pisella, Laure, Bernard, Isabelle, Martinaud, Olivier, Sauvée, Mathilde, Richard-Mornas, Aurélie, and Ryff, Ilham

Abstract

Résumé: Les troubles neurodéveloppementaux sont fréquents en population générale et perdurent souvent tout au long de la vie, même s'ils peuvent être masqués par des mécanismes de compensation ou des procédures d'évitement plus ou moins conscientes. Ces troubles sont pourtant souvent méconnus ou sous-estimés chez le sujet adulte, même lorsqu'ils ont été diagnostiqués pendant l'enfance. Ils peuvent aussi interagir de manière complexe avec les processus neurodégénératifs, modifiant ainsi les présentations habituelles de ces pathologies. Prendre en compte cette dimension neurodéveloppementale au cours des consultations mémoire permet de mieux appréhender les différentes trajectoires cognitives tout au long de la vie. Cette nouvelle dimension vient enrichir l'idée d'une démarche intégrative en adoptant une approche médicale cognitivo-comportementale de précision qui se veut personnalisée. Neurodevelopmental disorders are frequent in the general population and are often lifelong conditions despite sometimes being masked by conscious or unconscious compensation and avoidance mechanisms. These conditions are often unknown or underestimated in adults, even when diagnosed in childhood. Neurodevelopmental disorders share similarities with and frequently interact in a complex way with neurodegenerative disorders. Considering these aspects during memory clinic assessments can provide a new perspective on lifelong neurocognitive trajectories. Assessing both neurodevelopmental and neurodegenerative dimensions is challenging but should improve diagnostic accuracy. It is therefore necessary to understand the lifelong specific neurocognitive trajectory of each patient in order to develop personalized and focused cognitive medicine and care. [ABSTRACT FROM AUTHOR]

Published
2021
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26. Clinical relevance of brain atrophy subtypes categorization in memory clinics.

Author

Planche, Vincent, Bouteloup, Vincent, Mangin, Jean‐François, Dubois, Bruno, Delrieu, Julien, Pasquier, Florence, Blanc, Frédéric, Paquet, Claire, Hanon, Olivier, Gabelle, Audrey, Ceccaldi, Matthieu, Annweiler, Cédric, Krolak‐Salmon, Pierre, Habert, Marie‐Odile, Fischer, Clara, Chupin, Marie, Béjot, Yannick, Godefroy, Olivier, Wallon, David, and Sauvée, Mathilde

Abstract

Introduction: The clinical relevance of brain atrophy subtypes categorization in non‐demented persons without a priori knowledge regarding their amyloid status or clinical presentation is unknown. Methods: A total of 2083 outpatients with either subjective cognitive complaint or mild cognitive impairment at study entry were followed during 4 years (MEMENTO cohort). Atrophy subtypes were defined using baseline magnetic resonance imaging (MRI) and previously described algorithms. Results: Typical/diffuse atrophy was associated with faster cognitive decline and the highest risk of developing dementia and Alzheimer's disease (AD) over time, both in the whole analytic sample and in amyloid‐positive participants. Hippocampal‐sparing and limbic‐predominant atrophy were also associated with incident dementia, with faster cognitive decline in the limbic predominant atrophy group. Lewy body dementia was more frequent in the hippocampal‐sparing and minimal/no atrophy groups. Discussion: Atrophy subtypes categorization predicted different subsequent patterns of cognitive decline and rates of conversion to distinct etiologies of dementia in persons attending memory clinics. [ABSTRACT FROM AUTHOR]

Published
2021
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27. Do patients with Alzheimer’s disease still have a crush on crashes?

Author

Bourgin, Jessica, Morand, Alexandrine, Sauvée, Mathilde, Moreaud, Olivier, Silvert, Laetitia, Hot, Pascal, LAPSCO, HAL, 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]), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratoire de Psychologie Sociale et Cognitive (LAPSCO), and Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)

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

International audience

Published
2018

30. Early Emotional Attention is Impacted in Alzheimer's Disease: An Eye-Tracking Study.

Author

Kumfor, Fiona, Bourgin, Jessica, Chauvin, Alan, Hot, Pascal, Guyader, Nathalie, Juphard, Alexandra, Sauvée, Mathilde, Moreaud, Olivier, Silvert, Laetitia, and Sauvée, Mathilde

Subjects
ALZHEIMER'S disease, EYE movement disorders, RESPONSE inhibition, NEURODEGENERATION, AMYGDALOID body, ATTENTION-deficit hyperactivity disorder, COMPARATIVE studies, EMOTIONS, EYE movements, IMAGINATION, NEUROPSYCHOLOGICAL tests, RESEARCH methodology, MEDICAL cooperation, REACTION time, RESEARCH, EVALUATION research, DISEASE complications
Abstract

Emotional deficits have been repetitively reported in Alzheimer's disease (AD) without clearly identifying how emotional processing is impaired in this pathology. This paper describes an investigation of early emotional processing, as measured by the effects of emotional visual stimuli on a saccadic task involving both pro (PS) and anti (AS) saccades. Sixteen patients with AD and 25 age-matched healthy controls were eye-tracked while they had to quickly move their gaze toward a positive, negative, or neutral image presented on a computer screen (in the PS condition) or away from the image (in the AS condition). The age-matched controls made more AS mistakes for negative stimuli than for other stimuli, and triggered PSs toward negative stimuli more quickly than toward other stimuli. In contrast, patients with AD showed no difference with regard to the emotional category in any of the tasks. The present study is the first to highlight a lack of early emotional attention in patients with AD. These results should be taken into account in the care provided to patients with AD, since this early impairment might seriously degrade their overall emotional functioning. [ABSTRACT FROM AUTHOR]

Published
2018
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32. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Author

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

Published
2017
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33. Plasma NfL levels and longitudinal change rates in C9orf72and GRN-associated diseases: from tailored references to clinical applications

Author

Saracino, Dario, Dorgham, Karim, Camuzat, Agnès, Rinaldi, Daisy, Rametti-Lacroux, Armelle, Houot, Marion, Clot, Fabienne, Martin-Hardy, Philippe, Jornea, Ludmila, Azuar, Carole, Migliaccio, Raffaella, Pasquier, Florence, Couratier, Philippe, Auriacombe, Sophie, Sauvée, Mathilde, Boutoleau-Bretonnière, Claire, Pariente, Jérémie, Didic, Mira, Hannequin, Didier, Wallon, David, Colliot, Olivier, Dubois, Bruno, Brice, Alexis, Levy, Richard, Forlani, Sylvie, and Le Ber, Isabelle

Abstract

ObjectiveNeurofilament light chain (NfL) is a promising biomarker in genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We evaluated plasma neurofilament light chain (pNfL) levels in controls, and their longitudinal trajectories in C9orf72and GRNcohorts from presymptomatic to clinical stages.MethodsWe analysed pNfL using Single Molecule Array (SiMoA) in 668 samples (352 baseline and 316 follow-up) of C9orf72and GRNpatients, presymptomatic carriers (PS) and controls aged between 21 and 83. They were longitudinally evaluated over a period of >2 years, during which four PS became prodromal/symptomatic. Associations between pNfL and clinical–genetic variables, and longitudinal NfL changes, were investigated using generalised and linear mixed-effects models. Optimal cut-offs were determined using the Youden Index.ResultspNfL levels increased with age in controls, from ~5 to~18 pg/mL (p<0.0001), progressing over time (mean annualised rate of change (ARC): +3.9%/year, p<0.0001). Patients displayed higher levels and greater longitudinal progression (ARC: +26.7%, p<0.0001), with gene-specific trajectories. GRNpatients had higher levels than C9orf72(86.21 vs 39.49 pg/mL, p=0.014), and greater progression rates (ARC:+29.3% vs +24.7%; p=0.016). In C9orf72patients, levels were associated with the phenotype (ALS: 71.76 pg/mL, FTD: 37.16, psychiatric: 15.3; p=0.003) and remarkably lower in slowly progressive patients (24.11, ARC: +2.5%; p=0.05). Mean ARC was +3.2% in PS and +7.3% in prodromal carriers. We proposed gene-specific cut-offs differentiating patients from controls by decades.ConclusionsThis study highlights the importance of gene-specific and age-specific references for clinical and therapeutic trials in genetic FTD/ALS. It supports the usefulness of repeating pNfL measurements and considering ARC as a prognostic marker of disease progression.Trial registration numbersNCT02590276and NCT04014673.

Published
2021
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35. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers

Author

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

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

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

Published
2012
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36. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Author

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

Published
2015
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37. Intégration des déficits cognitifs dans l'échelle d'invalidité de la sclérose en plaques: à propos de 215 patients

Author

Sauvée, Mathilde, Université Henri Poincaré - Nancy 1 (UHP), UHP - Université Henri Poincaré, and Marc Debouverie

Subjects
[SDV]Life Sciences [q-bio], Thèse d'exercice de médecine, Non disponible / Not available, Sclérose en plaques, Troubles de la cognition
Abstract

Background: Estimate of the prevalence of cognitive impairment among patients with multiple sclerosis (MS) ranges between 40 and 70%. At present, the cerebral functional system (CFS) of the EDSS is subjective including several clinical signs as cognitive dysfunction and depression.Objectives: To define a new cognitive functional system (NCFS) based on aneuropsychological evaluation (NE). To assess change of EDSS with this new score.Methods: Prospectively, we have included 215 MS patients of LORSEP cohortbetween March 2004 and June 2007. Patients' data have been entered in the EDMUS (European Database of Multiple Sclerosis) system. NE evaluated cognitive functions (information processing speed, attention, executive functions, memories, language, visuospatial abilities and arithmetic), fatigue with the validated French version of FIS and depression. The NCFS was devised with the grades from O (normal) to 5 (severe dementia), depression excluded and fatigue included. The grade 1 of the NCFS was integrated in the EDSS as other FS. The NCFS and new EDSS including NCFS were established with the data of the NE and compared with EDSS.Results: Patients (median EDSS =3 .0, current age: 43.5 (SD= 10,8) years, diseaseduration: 11.2 (SD=8,6) years), included 149 women (69,3%). 98,1% of these patientspresented cognitive impairment with the NCFS compared to 62,3% with the CFS. NCFS washigher than CFS (p=3,5. Le changement de score fonctionnel n'est ni associé à l'âge ni à l'âge de début de la maladie. Conclusion : Nous proposons un score fonctionnel cognitif basé sur le BN, excluant la dépression et incluant la fatigue. Cependant l'EDSS ne permet pas une prise en compte correcte des troubles cognitifs.

Published
2008

39. Critical role of cPLA2 in Aβ oligomer-induced neurodegeneration and memory deficit.

Author

Institut National Polytechnique de Lorraine / INSERM [research center], Desbène, Cédric, Malaplate-Armand, Catherine, Youssef, Ihsen, Garcia, Pierre, Stenger, Christophe, Sauvée, Mathilde, Fischer, Nicolas, Rimet, Dorine, Koziel, Violette, Escanyé, Marie-Christine, Oster, Thierry, Kriem, Baddredine, Yen, Frances T, Pillot, Thierry, Olivier, Jean-Luc, Institut National Polytechnique de Lorraine / INSERM [research center], Desbène, Cédric, Malaplate-Armand, Catherine, Youssef, Ihsen, Garcia, Pierre, Stenger, Christophe, Sauvée, Mathilde, Fischer, Nicolas, Rimet, Dorine, Koziel, Violette, Escanyé, Marie-Christine, Oster, Thierry, Kriem, Baddredine, Yen, Frances T, Pillot, Thierry, and Olivier, Jean-Luc

Abstract

Soluble beta-amyloid (Aβ) oligomers are considered to putatively play a critical role in the early synapse loss and cognitive impairment observed in Alzheimer's disease. We previously demonstrated that Aβ oligomers activate cytosolic phospholipase A2 (cPLA2), which specifically releases arachidonic acid from membrane phospholipids. We here observed that cPLA2 gene inactivation prevented the alterations of cognitive abilities and the reduction of hippocampal synaptic markers levels noticed upon a single intracerebroventricular injection of Aβ oligomers in wild type mice. We further demonstrated that the Aβ oligomer-induced sphingomyelinase activation was suppressed and that phosphorylation of Akt/protein kinase B (PKB) was preserved in neuronal cells isolated from cPLA2−/− mice. Interestingly, expression of the Aβ precursor protein (APP) was reduced in hippocampus homogenates and neuronal cells from cPLA2−/− mice, but the relationship with the resistance of these mice to the Aβ oligomer toxicity requires further investigation. These results therefore show that cPLA2 plays a key role in the Aβ oligomer-associated neurodegeneration, and as such represents a potential therapeutic target for the treatment of Alzheimer's disease. Keywords Alzheimer's disease; Cytosolic phospholipase A2; Soluble beta-amyloid oligomers; Memory; Apoptosis; Synaptotoxicity; Amyloid precursor protein

Published
2012

40. Increased Cerebrospinal Fluid Tau Levels in Logopenic Variant of Alzheimer's Disease

Author

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

Published
2014
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41. DCTN1Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes

Author

Caroppo, Paola, primary, Le Ber, Isabelle, additional, Clot, Fabienne, additional, Rivaud-Péchoux, Sophie, additional, Camuzat, Agnès, additional, De Septenville, Anne, additional, Boutoleau-Bretonnière, Claire, additional, Mourlon, Vanessa, additional, Sauvée, Mathilde, additional, Lebouvier, Thibaud, additional, Bonnet, Anne-Marie, additional, Levy, Richard, additional, Vercelletto, Martine, additional, and Brice, Alexis, additional

Published
2014
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43. How could potential selection bias impact the analysis of correlates of cerebrospinal fluid biomarkers? the memento cohort

Author

Chene, Geneviève, Gabelle, Audrey, Bouteloup, Vincent, Dubois, Bruno, Vellas, Bruno, Chupin, Marie, Hanon, Olivier, Dartigues, Jean-François, Pasquier, Florence, Ceccaldi, Mathieu, Beauchet, Olivier, Blanc, Frederic, Salmon, Pierre Krolak, David, Renaud, Rouaud, Olivier, Godefroy, Olivier, Belin, Catherine, Auguste, Nicolas, Wallon, David, Azouani, Chabha, Benetos, Athanase, Paccalin, Marc, Sauvée, Mathilde, Hommet, Caroline, Sellal, François, Vercelletto, Martine, Fillon, Ludovic, Jalenques, Isabelle, Gentric, Armelle, Vandel, Pierre, Savarieau, Helen, Mangin, Jean-Francois, Paquet, Claire, and Dufouil, Carole

Published
2015
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44. Age differences in the association of white matter lesions with the occurrence of dementia: The memento cohort

Author

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

Published
2015
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47. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Author

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

Abstract

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

Published
2016
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50. Associations among hypertension, dementia biomarkers, and cognition: The MEMENTO cohort.

Author

Lespinasse J, Chêne G, Mangin JF, Dubois B, Blanc F, Paquet C, Hanon O, Planche V, Gabelle A, Ceccaldi M, Annweiler C, Krolak-Salmon P, Godefroy O, Wallon D, Sauvée M, Bergeret S, Chupin M, Proust-Lima C, and Dufouil C

Subjects
Humans, Cross-Sectional Studies, Positron-Emission Tomography, Magnetic Resonance Imaging, Cognition physiology, Biomarkers, Amyloid beta-Peptides metabolism, Alzheimer Disease metabolism, Cognitive Dysfunction metabolism, Hypertension
Abstract

Introduction: Approximately 40% of dementia cases could be delayed or prevented acting on modifiable risk factors including hypertension. However, the mechanisms underlying the hypertension-dementia association are still poorly understood., Methods: We conducted a cross-sectional analysis in 2048 patients from the MEMENTO cohort, a French multicenter clinic-based study of outpatients with either isolated cognitive complaints or mild cognitive impairment. Exposure to hypertension was defined as a combination of high blood pressure (BP) status and antihypertensive treatment intake. Pathway associations were examined through structural equation modeling integrating extensive collection of neuroimaging biomarkers and clinical data., Results: Participants treated with high BP had significantly lower cognition compared to the others. This association was mediated by higher neurodegeneration and higher white matter hyperintensities load but not by Alzheimer's disease (AD) biomarkers., Discussion: These results highlight the importance of controlling hypertension for prevention of cognitive decline and offer new insights on mechanisms underlying the hypertension-dementia association., Highlights: Paths of hypertension-cognition association were assessed by structural equation models. The hypertension-cognition association is not mediated by Alzheimer's disease biomarkers. The hypertension-cognition association is mediated by neurodegeneration and leukoaraiosis. Lower cognition was limited to participants treated with uncontrolled blood pressure. Blood pressure control could contribute to promote healthier brain aging., (© 2022 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)

Published
2023
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