Article
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
Journal of neurology, neurosurgery, and psychiatry - 1 Apr 1998
Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S
Abstract excerpt
OBJECTIVE: Hereditary progressive dystonia with pronounced diurnal fluctuation [(HPD)/dopa responsive dystonia (DRD)] is a childhood onset dystonia which responds to levodopa. Various clinical signs and symptoms of HPD/DRD have been recognised to date. Mutations in the GTP cyclohydrolase I (GTP-C...
Topics
- Adolescent
- Adult
- Age of Onset
- Case-Control Studies
- Circadian Rhythm
- DNA
- Disease Progression
- Dopamine Agents
- Exons
- Female
- GTP Cyclohydrolase
- Genetic Carrier Screening
- Hereditary Sensory and Motor Neuropathy
- Humans
- Japan