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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

โœ Scribed by Brashear, A.; Dobyns, W. B.; de Carvalho Aguiar, P.; Borg, M.; Frijns, C. J. M.; Gollamudi, S.; Green, A.; Guimaraes, J.; Haake, B. C.; Klein, C.; Linazasoro, G.; Munchau, A.; Raymond, D.; Riley, D.; Saunders-Pullman, R.; Tijssen, M. A. J.; Webb, D.; Zaremba, J.; Bressman, S. B.; Ozelius, L. J.


Book ID
126468011
Publisher
Oxford University Press
Year
2007
Tongue
English
Weight
107 KB
Volume
130
Category
Article
ISSN
0006-8950

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ATP1A3 mutation in the first asian case
โœ Jee-Young Lee; Seema Gollamudi; Laurie J. Ozelius; Ji-Young Kim; Beom S. Jeon ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 50 KB ๐Ÿ‘ 1 views

## Abstract We report a 38โ€yearโ€old Korean man with sporadic rapidโ€onset dystoniaโ€parkinsonism (RDP), who had a Thr 618 Met mutation in the Na^+^/K^+^โ€ATPase ฮฑ3 subunit gene (__ATP1A3__). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a whee