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Case Reports
. 2009 Aug 4;73(5):400-1.
doi: 10.1212/WNL.0b013e3181b04acd.

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

I A Anselm  1 , K J Sweadner, S Gollamudi, L J Ozelius, B T Darras
Affiliations
Case Reports

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

I A Anselm et al. Neurology. .
No abstract available

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Figures

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Figure Chromatograms illustrating a novel ATP1A3 gene mutation in a child with rapid-onset dystonia-parkinsonism Sequence from the patient and a control. Chromatograms show the mutation found in the patient in the ATP1A3 gene. (A) Wild type sequence. The arrow in (B) shows the heterozygous mutant sequence at position c.2767 G>A that results in a D923N amino acid substitution in the protein.
See this image and copyright information in PMC

References

    1. de Carvalho Aguiar P, Sweadner KJ, Penniston JT, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004;43:169–175. - PubMed
    1. Brashear A, Dobyns WB, de Carvalho Aguiar P, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007;130(Pt 3):828–835. - PubMed
    1. Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord 1996;11:151–156. - PubMed
    1. Pittock SJ, Joyce C, O’Keane V, et al. Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. Neurology 2000;55:991–995. - PubMed
    1. Morth JP, Pedersen BP, Toustrup-Jensen MS, et al. Crystal structure of the sodium-potassium pump. Nature 2007;450:1043–1049. - PubMed

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