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A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/doparesponsive dystonia
- Source :
- Neurology (Ovid); February 1998, Vol. 50 Issue: 2 p517-519, 3p
- Publication Year :
- 1998
-
Abstract
- We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed dystonia in the lower limbs at the age of 11 years, followed by spasmodic torticollis and resting tremor of the feet, which responded remarkably to low doses of levodopa (100 mg/day). Concentrations of biopterin and neopterin in CSF were decreased. Polymerase chain reaction analysis of the guanosine 5′-triphosphate cyclohydrolase I gene revealed a novel mutation (Thr186→Lys).
Details
- Language :
- English
- ISSN :
- 00283878 and 1526632X
- Volume :
- 50
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Neurology (Ovid)
- Publication Type :
- Periodical
- Accession number :
- ejs49004685
- Full Text :
- https://doi.org/10.1212/WNL.50.2.517