title: Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.
abstract: An intronic GGGGCC hexanucleotide repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in white populations. To determine if the C9orf72 repeat expansion was present in ALS patients in Chinese populations, we studied the size of the hexanucleotide repeat expansion in a cohort of familial and sporadic ALS patients of Chinese origin. No expanded hexanucleotide repeats were identified. This indicates that C9orf72 mutations are not a common cause of familial or sporadic ALS in Chinese mainland.
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Zhang-Yu
authors.initials: ZY
authors.lastname: Zou
authors.forename: Xiao-Guang
authors.initials: XG
authors.lastname: Li
authors.forename: Ming-Sheng
authors.initials: MS
authors.lastname: Liu
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Cui
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D000073885:C9orf72 Protein; D015331:Cohort Studies; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins