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Mov Disord. 2007 Jul 15;22(9):1325-7.

Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.

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1
Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin, Ireland.

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 alpha3 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.

PMID:
17516473
DOI:
10.1002/mds.21335
[Indexed for MEDLINE]
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