Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson's disease patients.


Journal Article

CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. Whether CHCHD2 gene mutations are involved in both of these diseases remains unclear. We sequenced CHCHD2 gene in 171 familial ET patients, 133 autosomal dominant Parkinson's disease patients, and 211 normal controls. No pathogenic mutations were found, suggesting that CHCHD2 gene may not play a major role in our familial Chinese Han ET and PD patients.

Full Text

Cited Authors

  • Gao, C; Chen, Y-M; Sun, Q; He, Y-C; Huang, P; Wang, T; Li, D-H; Liang, L; Liu, J; Xiao, Q; Chen, S-D

Published Date

  • January 2017

Published In

Volume / Issue

  • 49 /

Start / End Page

  • 218.e9 - 218.e11

PubMed ID

  • 27814991

Pubmed Central ID

  • 27814991

Electronic International Standard Serial Number (EISSN)

  • 1558-1497

International Standard Serial Number (ISSN)

  • 0197-4580

Digital Object Identifier (DOI)

  • 10.1016/j.neurobiolaging.2016.10.001


  • eng