• Xiao-Dan Wen, Hong-Fu Li, Hong-Xia Wang, Wang Ni, Yi Dong, and Zhi-Ying Wu.
• Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China.
• CNS Neurosci Ther. 2015 Aug 1; 21 (8): 626-30.

AimsRecently, mutations in COQ2 encoding para-hydroxybenzoate-polyprenyl transferase have been identified to increase the risk of multiple system atrophy (MSA) in multiplex families and sporadic cases. The prevalence of COQ2 mutations was showed to be higher in cerebellar subtype (MSA-C) than parkinsonism subtype (MSA-P). The aim of this study was to investigate the association between COQ2 mutations and MSA-C in Chinese patients.MethodsA Chinese cohort of 116 patients with MSA-C and 192 healthy control individuals were recruited. Sanger sequencing of COQ2 was performed in all these subjects.ResultsTwo missense mutations (p.L402F and p.R173H) and one synonymous mutation (p.A32A) were detected in 3 patients, respectively. They were not found in the 192 controls as well as the 1000 Genomes Database. The p.L402F and p.A32A were novel.ConclusionOur results indicated that COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to MSA.© 2015 John Wiley & Sons Ltd.

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