Affiliation:
1. Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
Abstract
Background:
Early-Onset Familial Alzheimer’s Disease (EOFAD) has been reported to be
associated with Presenilin 1 (PSEN1), Presenilin 2 (PSEN2), and Amyloid Precursor Protein (APP)
genes. The spectrum of mutations in Chinese patients with EOFAD was rarely investigated.
Objective:
To investigate the spectrum of mutations in patients with EOFAD in Chinese population.
Methods:
We performed whole-exome sequencing and described relevant clinical features in a total of
67 subjects from 3 families with EOFAD.
Results:
A splice mutation (p.S290C) in PSEN1 and a missense mutation (p.V717I) in APP were identified.
Conclusion:
The variant p. S290C (c.869-2>G) in PSEN1 in Chinese EOAD family revealed different
clinical phenotypes when compared with that of Europeans.
Funder
National Natural Science Foundation of China
National Key Technology R&D Program of China
Science Technology Department of Zhejiang Province
Zhejiang Provincial Natural Science Fund of China
Medical Science and Technology Project co-founded by Zhejiang Province and the Ministry of Health of China
Publisher
Bentham Science Publishers Ltd.
Subject
Clinical Neurology,Neurology
Cited by
2 articles.
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