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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.
Tijssen, Marina AJ
Bressman, Susan B.
Dobyns, William B.
Ozelius, Laurie J.
Yeshiva Univ Albert Einstein Coll Med
Universidade Federal de São Paulo (UNIFESP)
Massachusetts Gen Hosp
Inst Psychiat & Neurol
Beth Israel Deaconess Med Ctr
|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.|
|Appears in Collections:||Artigo|
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