title: Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase.
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).
authors.affiliation: Department of Neurology, UT Southwestern Medical Center at Dallas, TX 75390, USA.
authors.forename: Stephen C
authors.initials: SC
authors.lastname: Cannon
mesh_terms: D004421:Dystonia / Q000150:complications / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000150:complications / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics
chemical_list: C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase