Clarifying the association of CSF Aβ, tau, BACE1, and neurogranin with AT(N) stages in Alzheimer disease

Autor: Sylvain Lehmann, Susanna Schraen-Maschke, Luc Buée, Jean-Sébastien Vidal, Constance Delaby, Christophe Hirtz, Frédéric Blanc, Claire Paquet, Bernadette Allinquant, Stéphanie Bombois, Audrey Gabelle, Olivier Hanon, for the Alzheimer’s Disease Neuroimaging Initiative (ADNI)

Publikováno v: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-14 (2024)

Abstract Background Current AT(N) stratification for Alzheimer’s disease (AD) accounts for complex combinations of amyloid (A), tau proteinopathy (T) and neurodegeneration (N) signatures. Understanding the transition between these different stages

Externí odkaz: https://doaj.org/article/c860af25033746cb82e1ae7cdbcb2d80

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations

Autor: Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, Ber, Isabelle Le

Publikováno v: Parkinsonism and Related Disorders, Elsevier, 2020, 80, pp.73-81

Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial

Externí odkaz: http://arxiv.org/abs/2201.09654

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

Autor: 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, Wallon, David

Publikováno v: In Genetics in Medicine May 2024 26(5)

The free plasma amyloid Aβ1–42/Aβ1–40 ratio predicts conversion to dementia for subjects with mild cognitive impairment with performance equivalent to that of the total plasma Aβ1–42/Aβ1–40 ratio. The BALTAZAR study

Autor: Schraen-Maschke, S., Duhamel, A., Vidal, J.S., Ramdane, N., Vaudran, L., Dussart, C., Buée, L., Sablonnière, B., Delaby, C., Allinquant, B., Gabelle, A., Bombois, S., Lehmann, S., Hanon, O.

Publikováno v: In Neurobiology of Disease April 2024 193

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