Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease. - PubMed - NCBI

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease. - PubMed - NCBI

Neurobiol Aging. 2015 Nov 6. pii: S0197-4580(15)00550-3. doi: 10.1016/j.neurobiolaging.2015.10.038. [Epub ahead of print]

Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.

Zhang M1, Xi Z2, Fang S2, Ghani M2, Sato C2, Moreno D2, Liang Y2, Lang AE3, Rogaeva E4.

Author information

Abstract

Recently, several CHCHD2 mutations were reported to be associated with autosomal dominant Parkinson's disease (PD) in a Japanese population. However, an association between CHCHD2 and PD was not observed in 2 Caucasian data sets. The present study searched for CHCHD2 coding variants in Canadian PD patients. Sanger sequencing of all CHCHD2 exons revealed no coding mutations in 155 familial cases. Moreover, 3 coding CHCHD2 polymorphisms available on the NeuroX array (Pro2Leu, Pro14Ser, and Ile118Met) were homozygous for the major allele in an additional 85 PD patients. Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients.

Copyright © 2015 Elsevier Inc. All rights reserved.

KEYWORDS:

CHCHD2; Canadian; Mutation; Parkinson's disease

PMID:

 

26639156

 

[PubMed - as supplied by publisher]