Taiwanese cases of SCA2 are derived from a single founder. |
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| Authors: | Parastoo Momeni Chin-Song Lu Yah-Huei Wu Chou Hsiu-Chen Chang Rou-Shayn Chen Chiung-Chu Chen Jin-Tian Hsu Andrew Singleton John Hardy |
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| Affiliation: | Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA. momeni@mail.nih.gov |
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| 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. |
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| Keywords: | SCA2 parkinsonism ataxic phenotype haplotype common founder |
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