Hereditary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH). The clinical presentation of this disease varies considerably, and many cases appear to be sporadic. We have previously proposed that this clinical variation may be due to digetential expression o
GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia
β Scribed by Dr Yoshiaki Furukawa; Mitsunobu Shimadzu; Ali H. Rajput; Yumiko Shimuzu; Tetsuzo Tagawa; Hideo Mori; Masayuki Yokochi; Hirotaro Narabayashi; Oleh Hornykiewicz; Yoshikuni Mizuno; Stephen J. Kish
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 973 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Unstable GTP cyclohydrolase I (GCH) mutations in dopa-responsive dystonia (DRD) can exert a dominant-negative effect in the HeLa cell model, but in a batch of cells this effect could not be shown. Through differential display, we found a higher Hsc70 expression in the non-dominant-negative cells. We
Mutations in the GTP-cyclohydrolase I (GCH) gene have been identified as a cause of two disorders: autosomal dominant hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD) and autosomal recessive GCH-deficient hyperphenylalaninemia (HPA). Detailed clinical descriptions and genetic analy
We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [ 123 I]-N--fluoropropyl-2β€-carbomethoxy-3β€-(4iodophenyl) nortropane ( 123 I-FP-CIT) binding ratios indicative of Parkinson'
Tetrahydrobiopterin deficiencies are highly heterogeneous disorders, with more than 30 molecular lesions identified in the past 2 years in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. The spectrum of mutations causing a reduction of these two biosynthetic enzymes is revie