Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia–Parkinsonism kindred

Authors

  • Andrew McKeon MB, MRCPI,

    1. Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin, Ireland
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  • Laurie J. Ozelius MD,

    1. Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA
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  • Oria Hardiman MD, PRCPI,

    1. Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin, Ireland
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  • Matthew J. Greenway MB,

    1. Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin, Ireland
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  • Sean J. Pittock MD

    Corresponding author
    1. Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin, Ireland
    2. Departments of Neurology and Laboratory Medicine & Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    • Department of Neurology, Mayo Clinic, 200 First Street S.W., Rochester, MN 55905
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Abstract

The authors report a 7-year follow-up video study and molecular data on the Irish rapid-onset dystonia–Parkinsonism kindred. All affected patients tested had a missense mutation in the Na+/K+ -ATPase α3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na+/K+ ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia. © 2007 Movement Disorder Society

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