title: C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China.
abstract: Expansion of a GGGGCC hexanucleotide repeat in the gene C9ORF72 is a common pathogenic mutation in families with autosomal dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In order to understand whether pathogenic GGGGCC expansions of C9ORF72 are associated with spinocerebellar ataxia (SCA) in mainland China, we performed an experiment to determine the prevalence of pathogenic hexanucleotide expansions of C9ORF72 in a large cohort of Chinese Han patients with SCA. 411 sporadic patients with SCA and 314 healthy controls were screened for pathogenic hexanucleotide expansions of C9ORF72 utilizing a repeat primed polymerase chain reaction assay. However, no pathological repeat expansion of C9ORF72 was detected in either patients or controls. We therefore conclude that an expansion in C9ORF72 may not play a significant role in SCA in our cohort. However, more studies are needed to draw conclusions for the general population.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Miao
authors.initials: M
authors.lastname: He
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Wei-Qian
authors.initials: WQ
authors.lastname: Yan
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Xian-Feng
authors.initials: XF
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Jun-Sheng
authors.initials: JS
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan 410008, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan 410008, PR China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan 410008, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan 410008, PR China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan 410008, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan 410008, PR China.
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan 410008, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan 410008, PR China. Electronic address: wjling8002@126.com.
authors.forename: Jun-Ling
authors.initials: JL
authors.lastname: Wang
mesh_terms: D000328:Adult; D000073885:C9orf72 Protein; D002681:China; D042622:DNA Repeat Expansion; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Amyotrophic lateral sclerosis; C9ORF72; Cerebellum; Frontotemporal dementia; Spinocerebellar ataxia; Sporadic ataxia