Ontology highlight
ABSTRACT:
SUBMITTER: Wen XD
PROVIDER: S-EPMC6495228 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Wen Xiao-Dan XD Li Hong-Fu HF Wang Hong-Xia HX Ni Wang W Dong Yi Y Wu Zhi-Ying ZY
CNS neuroscience & therapeutics 20150620 8
<h4>Aims</h4>Recently, 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.<h4>Methods</h4>A Chinese cohort of 116 patients with MSA ...[more]