Article
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
European journal of human genetics : EJHG - 1 Jun 2012
Rovelet-Lecrux Anne, Legallic Solenn, Wallon David, Flaman Jean-Michel, Martinaud Olivier, Bombois Stéphanie, Rollin-Sillaire Adeline, Michon Agnès, Le Ber Isabelle, Pariente Jérémie, Puel Michèle, Paquet Claire, Croisile Bernard, Thomas-Antérion Catherine, Vercelletto Martine, Lévy Richard, Frébourg Thierry, Hannequin Didier, Campion Dominique
Abstract excerpt
Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes,...
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