Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase.
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).
Cannon
Stephen C
SC
Department of Neurology, UT Southwestern Medical Center at Dallas, TX 75390, USA.
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
C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase