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The metabolic pathology of dopa-responsive dystonia

Authors

  • Kotaro Asanuma MD,

    1. Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY
    2. Department of Neurology, North Shore University Hospital and New York University School of Medicine, New York, NY
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  • Yilong Ma PhD,

    1. Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY
    2. Department of Neurology, North Shore University Hospital and New York University School of Medicine, New York, NY
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  • Chaorui Huang MD, PhD,

    1. Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY
    2. Department of Neurology, North Shore University Hospital and New York University School of Medicine, New York, NY
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  • Maren Carbon-Correll MD,

    1. Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY
    2. Department of Neurology, North Shore University Hospital and New York University School of Medicine, New York, NY
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  • Christine Edwards MA,

    1. Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY
    2. Department of Neurology, North Shore University Hospital and New York University School of Medicine, New York, NY
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  • Deborah Raymond MS,

    1. Department of Neurology, Philips Ambulatory Care Center, Beth Israel Medical Center, New York, NY
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  • Susan B. Bressman MD,

    1. Department of Neurology, Philips Ambulatory Care Center, Beth Israel Medical Center, New York, NY
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  • James R. Moeller PhD,

    1. Department of Psychiatry, Columbia College of Physicians and Surgeons, Columbia University, New York, NY
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  • David Eidelberg MD

    Corresponding author
    1. Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY
    2. Department of Neurology, North Shore University Hospital and New York University School of Medicine, New York, NY
    • Center for Neurosciences, Institute for Medical Research, North Shore-Long Island Jewish Health System, 350 Community Drive, Manhasset, NY 11030
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Abstract

We used [18F]-fluorodeoxyglucose and positron emission tomography to determine a discrete cerebral pattern of abnormal glucose utilization in dopa-responsive dystonia. Network analysis demonstrated that dopa-responsive dystonia is associated with a specific pattern of regional metabolic covariation, characterized by increases in the dorsal midbrain, cerebellum, and supplementary motor area, as well as reductions in motor and lateral premotor cortex and in the basal ganglia. This pattern was not expressed in mutation carriers for primary torsion dystonia. Dopa-responsive dystonia has a unique metabolic architecture that differs from other inherited forms of dystonia. Ann Neurol 2005;57:596–600

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