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 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.
Kamphuis
Daan J
DJ
Department of Neurology, Reinier de Graaf Groep, Delft, The Netherlands. kamphuis@rdgg.nl
Koelman
Hans
H
Lees
Andrew J
AJ
Tijssen
Marina A J
MA
D000328:Adult; D003937:Diagnosis, Differential; D004292:Dominance, Cerebral / Q000235:genetics; D004401:Dysarthria / Q000175:diagnosis / Q000235:genetics; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008538:Meige Syndrome / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense; D009460:Neurologic Examination; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012008:Recurrence; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics
C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase