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

Wang, J.-C. and Alinaghi, S. and Tafakhori, A. and Sikora, E. and Azcona, L.J. and Karkheiran, S. and Goate, A. and Paisán-Ruiz, C. and Darvish, H. (2018) Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. Neurobiology of Aging, 62. 244.e15-244.e17.

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Abstract

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. © 2017 Elsevier Inc.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: amyloid precursor protein; presenilin 1; presenilin 2, adult; Alzheimer disease; Article; autosomal dominant disorder; controlled study; dementia; disease course; frontal lobe; gene mutation; genetic code; genetic screening; human; Iranian people; priority journal; temporal lobe
Subjects: WT Geriatrics. Chronic Disease
Depositing User: eprints admin
Date Deposited: 11 Dec 2018 13:53
Last Modified: 14 Aug 2019 08:41
URI: http://eprints.iums.ac.ir/id/eprint/6937

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