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

Andrew B McKeon, Laurie J. Ozelius, Oria Hardiman, Matthew J. Greenway, Sean J Pittock

Research output: Contribution to journalArticle

25 Scopus citations

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 languageEnglish (US)
Pages (from-to)1325-1327
Number of pages3
JournalMovement Disorders
Volume22
Issue number9
DOIs
StatePublished - Jul 15 2007

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Keywords

  • ATP1A3 mutation
  • Irish kindred
  • Rapid-onset dystonia-Parkinsonism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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