Article
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
PLoS medicine - 1 Mar 2017
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, Campion Dominique
Abstract excerpt
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...
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