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Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Authors

  • Ronald B. Postuma MD,

    1. Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada
    2. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
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  • Yoshiaki Furukawa MD,

    1. Movement Disorders Research Laboratory, Centre for Addiction and Mental Health-Clarke Division, Toronto, Ontario, Canada
    2. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
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  • Ekaterina Rogaeva PhD,

    1. Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
    2. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
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  • Peter H. St. George-Hyslop MD,

    1. Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
    2. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
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  • Matt J. Farrer PhD,

    1. Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
    2. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
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  • Anthony E. Lang MD

    Corresponding author
    1. Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, Toronto, Ontario Canada
    2. Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
    • Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, 399 Bathurst Street, MP11, Toronto, Ontario Canada M5T 2S8,
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  • A videotape accompanies this article.

Abstract

We report on a GTP cyclohydrolase 1 mutation-confirmed case of dopa-responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa-responsive dystonia is discussed. © 2003 Movement Disorder Society

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