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Title: Mutations in the Na+/K+-ATPase alpha 3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
Authors: Aguiar, Patricia de Carvalho [UNIFESP]
Sweadner, Kathleen J.
Penniston, John T.
Zaremba, Jacek
Liu, Liu
Caton, Marsha
Linazasoro, Gurutz
Borg, Miguel
Tijssen, Marina AJ
Bressman, Susan B.
Dobyns, William B.
Brashear, Allison
Ozelius, Laurie J.
Yeshiva Univ Albert Einstein Coll Med
Universidade Federal de São Paulo (UNIFESP)
Massachusetts Gen Hosp
Harvard Univ
Inst Psychiat & Neurol
Clin Quiron
CHU Nice
Univ Amsterdam
Beth Israel Deaconess Med Ctr
Univ Chicago
Indiana Univ
Issue Date: 22-Jul-2004
Publisher: Cell Press
Citation: Neuron. Cambridge: Cell Press, v. 43, n. 2, p. 169-175, 2004.
Abstract: Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. We report the finding of six missense mutations in the gene for the Na+/K+-ATPase alpha3 subunit (ATP1A3) in seven unrelated families with RDP. Functional studies and structural analysis of the protein suggest that these mutations impair enzyme activity or stability. This finding implicates the Na+/K+ pump, a crucial protein responsible for the electrochemical gradient across the cell membrane, in dystonia and parkinsonism.
ISSN: 0896-6273
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