Mutation screening of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis/frontotemporal dementia

被引：6

作者：

Gu, XiaoJing ^{[1
]}

Chen, YongPing ^{[1
]}

Wei, QianQian ^{[1
]}

Cao, Bei ^{[1
]}

Ou, Ruwei ^{[1
]}

Yuan, XiaoQin ^{[1
]}

Hou, YanBin ^{[1
]}

Zhang, LingYu ^{[1
]}

Liu, Hui ^{[1
]}

Chen, XuePing ^{[1
]}

Shang, Hui-Fang ^{[1
]}

机构：

[1] Sichuan Univ, West China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China

来源：

NEUROBIOLOGY OF AGING | 2018年 / 68卷

关键词：

Amyotrophic lateral sclerosis; T-cell intracellular antigen-1; Mutation; SCLEROSIS; ALS; IMPAIRMENT; CRITERIA;

D O I：

10.1016/j.neurobiolaging.2018.04.010

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Mutations in the low-complexity domain (LCD) of T-cell intracellular antigen-1 (TIA1) have been reported to be associated with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) in the Caucasian population. In the present study, we aimed to screen mutations in the LCD (exon 11-13) of TIA1 and determine the mutation frequency in Chinese ALS/FTD patients. A total of 740 ALS patients, including 721 sporadic ALS (sALS), 19 familial ALS, 24 FTD patients, and 501 healthy controls, were directly sequenced. A novel variant p.S349P was found in a male sALS patient who presented with mild cognitive decline and a survival time of 1.23 years since onset. No mutation in the LCD of TIA1 was found in the familial ALS and FTD patients. The mutation frequency of TIA1 was 0.14% (1/721) in Chinese sALS patients, which suggests that TIA1 mutation is an uncommon genetic cause for ALS in the Chinese population. (C) 2018 Elsevier Inc. All rights reserved.

引用

页码：161.e1 / 161.e3

页数：3