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Responsiveness to levodopa in epsilon-sarcoglycan deletions

Authors

  • Marta San Luciano MD,

    1. Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
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  • Laurie Ozelius PhD,

    1. Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
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  • Katherine Sims MD,

    1. Department of Pediatric Neurology and Neurogenetics, Massachusetts General Hospital, Boston, Massachusetts, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
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  • Deborah Raymond MS,

    1. Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
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  • Liu Liu PhD,

    1. Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
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  • Rachel Saunders-Pullman MD

    Corresponding author
    1. Department of Neurology, Beth Israel Medical Center, New York, New York, USA
    2. Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
    • Department of Neurology, Albert Einstein College of Medicine, Beth Israel Medical Center, 10 Union Sq East, Suite 2Q, New York, NY 10003

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  • Potential conflict of interest: None reported.

Abstract

Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M-D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M-D due to SCGE deletions who displayed a robust and sustained response to levodopa (L-dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia. © 2008 Movement Disorder Society

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