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

AbstractThe 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

Heterogeneity of presentation and outcome in the Irish rapid‐onset dystonia–Parkinsonism kindred Journal Articles