title: Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.
abstract: The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene. Among 522 Chinese Han SCA patients (including familial and sporadic) we have collected since 1995, approximately 40% of them have not yet been assigned genotype. To investigate the mutation frequency of KCNC3 in SCA patients from mainland Chinese Han population, we analyzed the KCNC3 gene in 201 unrelated patients diagnosed with dominantly inherited cerebellar ataxia using the denaturing high-performance liquid chromatography (DHPLC) method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified, suggesting that SCA13 be a rare form of SCA in mainland China.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
authors.forename: Lan
authors.initials: L
authors.lastname: Peng
authors.forename: Chunrong
authors.initials: C
authors.lastname: Wang
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.forename: Jun-Ling
authors.initials: JL
authors.lastname: Wang
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China / Q000453:epidemiology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D051670:Shaw Potassium Channels / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*
chemical_list: C489594:KCNC3 protein, human; D051670:Shaw Potassium Channels