title: Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.
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 alpha3 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.
authors.affiliation: Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin, Ireland.
authors.forename: Andrew
authors.initials: A
authors.lastname: McKeon
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: Oria
authors.initials: O
authors.lastname: Hardiman
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Greenway
authors.forename: Sean J
authors.initials: SJ
authors.lastname: Pittock
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007494:Ireland; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000150:complications* / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*
chemical_list: C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase