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

Stephen C. Cannon

Research output: Contribution to journalReview article

17 Scopus citations

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 α3 subunit (ATP1A3) as a cause of rapid-onset dystonia-parkinsonism (RDP, DYT12).

Original languageEnglish (US)
Pages (from-to)153-154
Number of pages2
JournalNeuron
Volume43
Issue number2
DOIs
StatePublished - Jul 22 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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