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Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease
Author(s) -
Kamphuis Daan J.,
Koelman Hans,
Lees Andrew J.,
Tijssen Marina A.J.
Publication year - 2006
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.20695
Subject(s) - parkinsonism , dystonia , levodopa , missense mutation , medicine , pediatrics , disease , parkinson's disease , degenerative disease , psychology , mutation , psychiatry , genetics , biology , gene
We report on a 38‐year‐old patient with rapid‐onset dystonia–parkinsonism (RDP) with a missense mutation in the Na/K‐ATPase α3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa‐unresponsive parkinsonism even if there is no family history and the classic presentation is lacking. © 2005 Movement Disorder Society