G2Cdb::Allele report

Mutation type
MI

Altered genes (1)

Gene Symbol Species Description
G00001323 ATP1A3 Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide

Diseases (1)

Disease Description Nervous effect
D00000192 Dystonia parkinsonism (rapid onset) Y

Literature (1)

Pubmed - other

  • Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

    de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A and Ozelius LJ

    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

    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.

    Funded by: NHLBI NIH HHS: HL36251; NIA NIH HHS: AG10133; NIGMS NIH HHS: GM28835; NINDS NIH HHS: NS26636

    Neuron 2004;43;2;169-75

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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