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Updated: Aug 16, 2026

Cell Lineage Analyses and Gene Function Studies Using Twin-spot MARCM
Published on: March 2, 2017
Taiwanese cases of SCA2 are derived from a single founder
Parastoo Momeni1, Chin-Song Lu, Yah-Huei Wu Chou
1Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA. momeni@mail.nih.gov
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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