Gaël Nicolas, Aline Zaréa, Morgane Lacour, Olivier Quenez, Stéphane Rousseau, Anne-Claire Richard, Antoine Bonnevalle, Catherine Schramm, Robert Olaso, Florian Sandron, Anne Boland, Jean-François Deleuze, Daniela Andriuta, Pierre Anthony, Sophie Auriacombe, Anna-Chloé Balageas, Guillaume Ballan, Mélanie Barbay, Yannick Bejot, Serge Belliard, Marie Benaiteau, Karim Bennys, Stéphanie Bombois, Claire Boutoleau-Bretonniere, Pierre Branger, Jasmine Carlier, Leslie Cartz-Piver, Pascaline Cassagnaud, Mathieu-Pierre Ceccaldi, Valérie Chauvire, Yaohua Chen, Julien Cogez, Emmanuel Cognat, Fabienne Contegal-Callier, Lea Corneille, Philippe Couratier, Benjamin Cretin, Charlotte Crinquette, Benjamin Dauriat, Sophie Dautricourt, Vincent de la Sayette, Astrid de Liège, Didier Deffond, Florence Demurger, Vincent Deramecourt, Céline Derollez, Elsa Dionet, Martine Doco Fenzy, Julien Dumurgier, Anais Dutray, Frédérique Etcharry-Bouyx, Maïté Formaglio, Audrey Gabelle, Anne Gainche-Salmon, Olivier Godefroy, Mathilde Graber, Chloé Gregoire, Stephan Grimaldi, Julien Gueniat, Claude Gueriot, Virginie Guillet-Pichon, Sophie Haffen, Cezara-Roxana Hanta, Clemence Hardy, Geoffroy Hautecloque, Camille Heitz, Claire Hourregue, Thérèse Jonveaux, Snejana Jurici, Lejla Koric, Pierre Krolak-Salmon, Julien Lagarde, Hélène-Marie Lanoiselée, Brice Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie Leblanc, Thibaud Lebouvier, Richard Levy, Anaïs Lippi, Marie-Anne Mackowiak, Eloi Magnin, Cecilia Marelli, Olivier Martinaud, Aurelien Maureille, Raffaella Migliaccio, Emilie Milongo-Rigal, Sophie Mohr, Helene Mollion, Alexandre Morin, Julia Nivelle, Camille Noiray, Pauline Olivieri, Claire Paquet, Jérémie Pariente, Florence Pasquier, Alexandre Perron, Nathalie Philippi, Vincent Planche, Hélène Pouclet-Courtemanche, Marie Rafiq, Adeline Rollin-Sillaire, Carole Roué-Jagot, Dario Saracino, Marie Sarazin, Mathilde Sauvée, François Sellal, Marc Teichmann, Christel Thauvin, Quentin Thomas, Camille Tisserand, Cédric Turpinat, Laurène Van Damme, Olivier Vercruysse, Nicolas Villain, Nathalie Wagemann, Camille Charbonnier, David Wallon
PURPOSE: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). METHODS: We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) ≤65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66<AOO<75, n=92)...
January 24, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics