A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease

被引：21
|
作者：
Guo, Jifeng [1 ,3 ]
Wei, Jiaohua [1 ]
Liao, Shusheng [1 ]
Wang, Lei [1 ]
Jiang, Hong [1 ,3 ]
Tang, Beisha [1 ,2 ,3 ]
机构：
[1] Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
[2] Natl Lab Med Genet China, Changsha 410008, Hunan, Peoples R China
[3] Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China
来源：
NEUROSCIENCE LETTERS | 2010年 / 468卷 / 01期
基金：
中国国家自然科学基金;
关键词：
Familial Alzheimer's disease; Early-onset; Presenilin; 1; Mutation; MISSENSE MUTATIONS; GENE; ASSOCIATION;
D O I：
10.1016/j.neulet.2009.10.055
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Early-onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Here we report a novel PSEN1 mutation in a Chinese family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. Molecular genetic analysis showed a 507-509delATC mutation at codon 169, leading to the deletion of serine in residue 169 (Ser169del). The amnestic presentation and absence of other features contrast with the other two mutations at codon 169 which have been associated with myoclonic jerks and seizures. (C) 2009 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码：34 / 37
页数：4
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