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

Mov Disord. 2006 Jan;21(1):118-9. doi: 10.1002/mds.20695.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Dominance, Cerebral / genetics
  • Dysarthria / diagnosis
  • Dysarthria / genetics
  • Dystonic Disorders / diagnosis*
  • Dystonic Disorders / genetics
  • Follow-Up Studies
  • Humans
  • Male
  • Meige Syndrome / diagnosis*
  • Meige Syndrome / genetics
  • Mutation, Missense
  • Neurologic Examination
  • Parkinson Disease / diagnosis*
  • Parkinson Disease / genetics
  • Parkinsonian Disorders / diagnosis*
  • Parkinsonian Disorders / genetics
  • Phenotype
  • Recurrence
  • Sodium-Potassium-Exchanging ATPase / genetics

Substances

  • ATP1A3 protein, human
  • Sodium-Potassium-Exchanging ATPase