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Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase

Neuron. 2004 Jul 22;43(2):153-4. doi: 10.1016/j.neuron.2004.07.002.

Abstract

Dystonia is a disorder of involuntary sustained muscle contraction, which usually affects a focal region of the body but may be generalized and results in twisting contorted movements or abnormal postures. Several clinical subtypes of dystonia have been delineated and many have a strong inherited basis. In this issue of Neuron, de Carvalho Aguiar and colleagues report the identification of missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) as a cause of rapid-onset dystonia-parkinsonism (RDP, DYT12).

Publication types

  • Editorial
  • Comment

MeSH terms

  • Dystonia / complications
  • Dystonia / genetics*
  • Humans
  • Mutation, Missense*
  • Parkinsonian Disorders / complications
  • Parkinsonian Disorders / genetics*
  • Sodium-Potassium-Exchanging ATPase / genetics

Substances

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