Genetic analysis of the CHCHD2 gene in Chinese patients with familial essential tremor

NEUROSCIENCE LETTERS

卷:634

Article

Wu, Hongwei¹  Lu, Xingjiao^1,2  Cen, Zhidong¹  Xie, Fei^1,3  Zheng, Xiaosheng¹  Chen, You¹  Luo, Wei¹ 

[1] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China

[2] Zhejiang Hosp, Dept Neurol, 12 Lingyin Rd, Hangzhou 3100013, Zhejiang, Peoples R China

[3] Zhejiang Univ, Sch Med, Sir Run Run Shaw Hosp, Dept Neurol, 3 East Qingchun Rd, Hangzhou 310016, Zhejiang, Peoples R China

关键词: Essential tremor;    Parkinson disease;    CHCHD2;    Chinese population;   

DOI  :  10.1016/j.neulet.2016.10.005

来源: Elsevier

【 摘 要 】

Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). However, the relationship between CHCHD2 and essential tremor (ET) patients was still unknown. Genetic analysis of CHCHD2 gene was conducted in 60 probands of ET families with autosomal dominant inheritance and 90 healthy controls in Chinese population. No pathogenic CHCHD2 mutation was found in ET patients. However, we identified one rare variant, c.5C >T, a reported risk variant for sporadic PD in Japanese populations, and examined the frequency of three common variants. Our results suggested that CHCHD2 mutations may be rare in Chinese familial ET patients. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

【 授权许可】

Free