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 alpha 3 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 levodopaunresponsive parkinsonism even if there is no family history and the classic presentation is lacking. (C) 2005 Movement Disorder Society.