title: SCA31 is rare in the Chinese population on Taiwan.
abstract: Spinocerebellar ataxia (SCA) is a clinically, pathologically, and genetically heterogeneous group of dominantly inherited neurodegenerative disorders. SCA31 has recently been reported to be associated with a complex penta-nucleotide (TGGAA)n repeat insertion in the introns of TK2 and BEAN. In this study we excluded SCA31 mutation from 119 unrelated patients with molecularly unassigned hereditary cerebellar ataxia, out of 512 pedigrees, after mutations in SCA1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy (DRPLA) had been excluded. Our data indicate that SCA31 is absent or rare in the Chinese population on Taiwan.
authors.affiliation: Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.
authors.forename: Yi-Chung
authors.initials: YC
authors.lastname: Lee
authors.forename: Chin-San
authors.initials: CS
authors.lastname: Liu
authors.forename: Tzu-Ying
authors.initials: TY
authors.lastname: Lee
authors.forename: Yang-Chung
authors.initials: YC
authors.lastname: Lo
authors.forename: Yi-Chun
authors.initials: YC
authors.lastname: Lu
authors.forename: Bing-Wen
authors.initials: BW
authors.lastname: Soong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000706:statistics & numerical data*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology; D055815:Young Adult