Article
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brain : a journal of neurology - 1 Mar 2007
Brashear Allison, Dobyns William B, de Carvalho Aguiar Patricia, Borg Michel, Frijns C J M, Gollamudi Seema, Green Andrew, Guimaraes João, Haake Bret C, Klein Christine, Linazasoro Gurutz, Münchau Alexander, Raymond Deborah, Riley David, Saunders-Pullman Rachel, Tijssen Marina A J, Webb David, Zaremba Jacek, Bressman Susan B, Ozelius Laurie J
Abstract excerpt
Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. We obtained clinical data and sequenced the ATP1A3 gene in 49 subjects from 21 families referred with 'possible' RDP, and performed a genotype-phenotype analysis. Of the new families referred for study only 3 of 14 families (21%)...
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