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SCA2 may present as levodopa-responsive parkinsonism

Authors

  • Haydeh Payami PhD,

    Corresponding author
    1. Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
    2. Wadsworth Center, Albany, New York, USA
    • Wadsworth Center, 120 New Scotland Ave., Albany, NY, 12208
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  • John Nutt MD,

    1. Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
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  • Steven Gancher MD,

    1. Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
    2. Kaiser Permanante, Portland, Oregon, USA
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  • Thomas Bird MD,

    1. Department of Neurology, University of Washington and Veterans Affairs Puget Sound Health Care System, Seattle, Washington, USA
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  • Melissa Gonzales McNeal MS,

    1. Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA
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  • William K. Seltzer PhD,

    1. Athena Diagnostics, Inc. Worcester, Massachusetts, USA
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  • Jennifer Hussey BS,

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
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  • Paul Lockhart PhD,

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
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  • Katrina Gwinn-Hardy MD,

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
    2. Laboratories of Neurogenetics, National Institute of Ageing and National Institute of Neurological Disorders and Stroke, Bethesda Maryland, USA
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  • Amanda A. Singleton BS,

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
    2. Laboratories of Neurogenetics, National Institute of Ageing and National Institute of Neurological Disorders and Stroke, Bethesda Maryland, USA
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  • Andrew B. Singleton PhD,

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
    2. Laboratories of Neurogenetics, National Institute of Ageing and National Institute of Neurological Disorders and Stroke, Bethesda Maryland, USA
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  • John Hardy PhD,

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
    2. Laboratories of Neurogenetics, National Institute of Ageing and National Institute of Neurological Disorders and Stroke, Bethesda Maryland, USA
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  • Matthew Farrer PhD

    1. Departments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, Florida, USA
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Abstract

Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (≤31 repeats is normal, 32–35 is borderline, ≥36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism. © 2002 Movement Disorder Society

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