Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Publication date: February 2018
Source:Neurobiology of Aging, Volume 62
Author(s): Jen-Chyong Wang, Somayeh Alinaghi, Abbas Tafakhori, Elizabeth Sikora, Luis J. Azcona, Siamak Karkheiran, Alison Goate, Coro Paisán-Ruiz, Hossein Darvish
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years.



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