The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
โ 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
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract We report a 38โyearโold Korean man with sporadic rapidโonset dystoniaโparkinsonism (RDP), who had a Thr 618 Met mutation in the Na^+^/K^+^โATPase ฮฑ3 subunit gene (__ATP1A3__). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a whee