G2Cdb::Allele report

Mutation type

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 - human_disease

  • Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.

    Kamphuis DJ, Koelman H, Lees AJ and Tijssen MA

    Department of Neurology, Reinier de Graaf Groep, Delft, The Netherlands. kamphuis@rdgg.nl

    We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa-unresponsive parkinsonism even if there is no family history and the classic presentation is lacking.

    Movement disorders : official journal of the Movement Disorder Society 2006;21;1;118-9

© 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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