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

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 alpha 3 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. (c) 2007 Movement Disorder Society