Taiwanese cases of SCA2 are derived from a single founder.
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.
Momeni
Parastoo
P
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA. momeni@mail.nih.gov
Lu
Chin-Song
CS
Chou
Yah-Huei Wu
YH
Chang
Hsiu-Chen
HC
Chen
Rou-Shayn
RS
Chen
Chiung-Chu
CC
Hsu
Jin-Tian
JT
Singleton
Andrew
A
Hardy
John
J
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
D000067528:Ataxins; D009419:Nerve Tissue Proteins