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Sporadic rapid-onset dystonia–parkinsonism presenting as Parkinson's disease



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

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