Abstract
We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 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.
Copyright (c) 2005 Movement Disorder Society.
MeSH terms
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Adult
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Diagnosis, Differential
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Dominance, Cerebral / genetics
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Dysarthria / diagnosis
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Dysarthria / genetics
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Dystonic Disorders / diagnosis*
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Dystonic Disorders / genetics
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Follow-Up Studies
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Humans
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Male
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Meige Syndrome / diagnosis*
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Meige Syndrome / genetics
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Mutation, Missense
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Neurologic Examination
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Parkinson Disease / diagnosis*
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Parkinson Disease / genetics
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Parkinsonian Disorders / diagnosis*
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Parkinsonian Disorders / genetics
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Phenotype
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Recurrence
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Sodium-Potassium-Exchanging ATPase / genetics
Substances
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ATP1A3 protein, human
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Sodium-Potassium-Exchanging ATPase