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.
Original language | English (US) |
---|---|
Pages (from-to) | 1325-1327 |
Number of pages | 3 |
Journal | Movement Disorders |
Volume | 22 |
Issue number | 9 |
DOIs | |
State | Published - Jul 15 2007 |
Keywords
- ATP1A3 mutation
- Irish kindred
- Rapid-onset dystonia-Parkinsonism
ASJC Scopus subject areas
- Neurology
- Clinical Neurology