• Neurobiology of aging · Feb 2016

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

    • Ming Zhang, Zhengrui Xi, Shilun Fang, Mahdi Ghani, Christine Sato, Danielle Moreno, Yan Liang, Anthony E Lang, and Ekaterina Rogaeva.
    • Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada. Electronic address: mingr.zhang@utoronto.ca.
    • Neurobiol. Aging. 2016 Feb 1; 38: 217.e7-8.

    AbstractRecently, 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 © 2016 Elsevier Inc. All rights reserved.

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