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Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease
- Source :
- Scopus-Elsevier
- Publication Year :
- 2000
- Publisher :
- Elsevier BV, 2000.
-
Abstract
- The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered.
- Subjects :
- medicine.medical_specialty
GTP cyclohydrolase I
Biology
medicine.disease_cause
Genetic determinism
Developmental Neuroscience
Dopamine
Internal medicine
Molecular genetics
medicine
Humans
GTP Cyclohydrolase
Dystonia
Genetics
Mutation
Tyrosine hydroxylase
General Medicine
Tetrahydrobiopterin
medicine.disease
Biopterin
Endocrinology
Dystonic Disorders
Pediatrics, Perinatology and Child Health
biology.protein
Neurology (clinical)
medicine.drug
Subjects
Details
- ISSN :
- 03877604
- Volume :
- 22
- Database :
- OpenAIRE
- Journal :
- Brain and Development
- Accession number :
- edsair.doi.dedup.....9e68cf0be7317c16a3fe82958670103c
- Full Text :
- https://doi.org/10.1016/s0387-7604(00)00136-4