The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

The primary constituents of plaques (Aβ42/Aβ40) and neurofibrillary tangles (tau and phosphorylated forms of tau [ptau]) are the current leading diagnostic and prognostic cerebrospinal fluid (CSF) biomarkers for AD. In this study, we performed deep sequencing of APP, PSEN1, PSEN2, GRN, APOE and MAPT...

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Main Authors: Bruno A Benitez, Celeste M Karch, Yefei Cai, Sheng Chih Jin, Breanna Cooper, David Carrell, Sarah Bertelsen, Lori Chibnik, Julie A Schneider, David A Bennett, Alzheimer's Disease Neuroimaging Initiative, Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD, Anne M Fagan, David Holtzman, John C Morris, Alison M Goate, Carlos Cruchaga
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3750021?pdf=render