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Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease

Authors

  • Michiko K. Bruno MD,

    Corresponding author
    1. Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    2. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    3. Howard Hughes Medical Institute, Department of Neurology, University of California San Francisco, San Francisco California, USA
    • Building 10, Room 5N226, 9000 Rockville Pike10 Center Drive MSC 1428, Bethesda, MD 20892-1428
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  • Bernard Ravina MD,

    1. Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Gaetan Garraux MD, PhD,

    1. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Mark Hallett MD,

    1. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Louis Ptacek MD,

    1. Howard Hughes Medical Institute, Department of Neurology, University of California San Francisco, San Francisco California, USA
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  • Amanda Singleton BS,

    1. Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Janel Johnson BA,

    1. Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA
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  • Andrew Singleton PhD,

    1. Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA
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  • Melissa Hanson MS,

    1. Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA
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  • Elaine Considine BSN,

    1. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • Katrina Gwinn-Hardy MD

    1. Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
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  • A videotape accompanies this article.

Abstract

Paroxysmal exercise-induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise-induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, ssequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype–phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future. © 2003 Movement Disorder Society

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