Article
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
PLoS genetics - 1 Jan 2013
Benitez Bruno A, Karch Celeste M, Cai Yefei, Jin Sheng Chih, Cooper Breanna, Carrell David, Bertelsen Sarah, Chibnik Lori, Schneider Julie A, Bennett David A, Fagan Anne M, Holtzman David, Morris John C, Goate Alison M, Cruchaga Carlos
Abstract excerpt
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 genes in individuals with extreme CSF Aβ42, tau, or ptau levels. One known pathogenic mutation (PSEN1 p.A426P),...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Amyloid beta-Peptides
- Apolipoprotein E4
- Female
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans