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

✍ Scribed by Andrew McKeon; Laurie J. Ozelius; Oria Hardiman; Matthew J. Greenway; Sean J. Pittock

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 69 KB
Volume: 22
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21335

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✦ Synopsis

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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