title: SCA38 is rare in Mainland China.
abstract: Spinocerebellar ataxias (SCAs) are a group of dominantly inherited neurodegenerative disorders distributed worldwide. Nearly 35 SCAs have been localized and 28 genes have been identified. Recently, mutations in the elongation of a very long chain fatty acids-5 gene (ELOVL5) were reported to cause a SCA38 subtype. To describe the epidemiology of SCA38 in Mainland China, we analyzed the coding sequence of ELOVL5 in 346 patients diagnosed as SCAs. Finally, we did not observe any disease-related gene mutations in ELOVL5. This suggests that the SCA38 subtype is very rare in Mainland China.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Junsheng
authors.initials: J
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Human Province Key Laboratory of Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China. Electronic address: wjling8002@126.com.
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D002681:China; D000081031:Fatty Acid Elongases; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*
chemical_list: C000630954:ELOVL5 protein, human; D000123:Acetyltransferases; D000081031:Fatty Acid Elongases
keywords: ELOVL5; Fatty-acid metabolism; Mainland China; Prevalence; Sanger sequencing; Spinocerebellar ataxias 38