title: Taiwanese cases of SCA2 are derived from a single founder.
abstract: We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA. momeni@mail.nih.gov
authors.forename: Parastoo
authors.initials: P
authors.lastname: Momeni
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
authors.forename: Yah-Huei Wu
authors.initials: YH
authors.lastname: Chou
authors.forename: Hsiu-Chen
authors.initials: HC
authors.lastname: Chang
authors.forename: Rou-Shayn
authors.initials: RS
authors.lastname: Chen
authors.forename: Chiung-Chu
authors.initials: CC
authors.lastname: Chen
authors.forename: Jin-Tian
authors.initials: JT
authors.lastname: Hsu
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
authors.forename: John
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000328:Adult; D000368:Aged; D001259:Ataxia / Q000235:genetics*; D000067528:Ataxins; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013624:Taiwan / Q000208:ethnology
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins