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Heterogeneity of presentation and outcome in the Irish rapid‐onset dystonia–Parkinsonism kindred
Author(s) -
McKeon Andrew,
Ozelius Laurie J.,
Hardiman Oria,
Greenway Matthew J.,
Pittock Sean J.
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21335
Subject(s) - dystonia , parkinsonism , missense mutation , pediatrics , medicine , presentation (obstetrics) , clinical phenotype , age of onset , phenotype , neuroscience , psychology , genetics , surgery , disease , biology , gene
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. © 2007 Movement Disorder Society