Tehran University of Medical Sciences

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Genetic Screening in Two Iranian Families With Early-Onset Alzheimer's Disease Identified a Novel Psen1 Mutation Publisher Pubmed



Wang JC1, 2, 3 ; Alinaghi S4 ; Tafakhori A5 ; Sikora E1 ; Azcona LJ1, 6 ; Karkheiran S7 ; Goate A1, 2, 3, 6, 8 ; Paisanruiz C2, 3, 6, 8, 9, 10 ; Darvish H4
Authors

Source: Neurobiology of Aging Published:2018


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.