Taiwanese cases of SCA2 are derived from a single founder

Authors

  • Parastoo Momeni PhD,

    Corresponding author
    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    • Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Building, 35 Convent Road, Room 1A1010, Bethesda, MD 20952
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  • Chin-Song Lu MD,

    1. Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan
    2. Neuroscience Research Center, Chang Gung Memorial Hospital, Taipei, Taiwan
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  • Yah-Huei Wu Chou PhD,

    1. Neuroscience Research Center, Chang Gung Memorial Hospital, Taipei, Taiwan
    2. Human Molecular Genetics Laboratory, Chang Gung Memorial Hospital, Taipei, Taiwan
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  • Hsiu-Chen Chang BS,

    1. Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan
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  • Rou-Shayn Chen MD,

    1. Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan
    2. Neuroscience Research Center, Chang Gung Memorial Hospital, Taipei, Taiwan
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  • Chiung-Chu Chen MD,

    1. Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan
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  • Jin-Tian Hsu MD,

    1. Department of Neurology, Kaohsiung Medical University, Chung-Ho Memorial Hospital, Kaohsiung, Taiwan
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  • Andrew Singleton PhD,

    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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  • John Hardy PhD

    1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
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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. © 2005 Movement Disorder Society

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