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Brief Report
Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia–Parkinsonism kindred
Article first published online: 21 MAY 2007
DOI: 10.1002/mds.21335
Copyright © 2007 Movement Disorder Society
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Additional Information
How to Cite
McKeon, A., Ozelius, L. J., Hardiman, O., Greenway, M. J. and Pittock, S. J. (2007), Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia–Parkinsonism kindred. Mov. Disord., 22: 1325–1327. doi: 10.1002/mds.21335
Publication History
- Issue published online: 23 JUL 2007
- Article first published online: 21 MAY 2007
- Manuscript Accepted: 17 OCT 2006
- Manuscript Received: 20 SEP 2006
Keywords:
- rapid-onset dystonia-Parkinsonism;
- Irish kindred;
- ATP1A3 mutation
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