title: C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy.
abstract: The hexanucleotide repeat expansions in the C9ORF72 gene has been found in some patients with atypical Parkinsonism. A number of hexanucleotide repeats were examined in a Chinese population, including 619 patients with Parkinson's disease (PD), 381 patients with multiple system atrophy (MSA), and 632 healthy controls. We did not identify any pathogenic repeat expansions in either patients or controls, and any associations between repeats number and disease risk. C9ORF72 expansions are not involved the wider spectrum of Parkinsonism.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Xueping
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Yongping
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Ruwei
authors.initials: R
authors.lastname: Ou
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Bei
authors.initials: B
authors.lastname: Cao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Bi
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China. hfshang2002@126.com.
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D000073885:C9orf72 Protein / Q000235:genetics*; D002681:China; D015331:Cohort Studies; D042622:DNA Repeat Expansion; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human
keywords: C9ORF72; Genetic association; Multiple system atrophy; Parkinsonism; Parkinson’s disease; Risk factor