Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa

Neurology

Volumn 55, Issue 11, 2000, Pages 1735-1737

  Steinberger, D ^a   Korinthenberg, R ^b   Topka, H ^c   Berghauser M ^a   Wedde, R ^a   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; DIFFERENTIAL DIAGNOSIS; DRUG EFFICACY; DYSTONIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; PROMOTER REGION; REMISSION; TREATMENT OUTCOME; TREMOR;

EID: 0034642213     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.55.11.1735     Document Type: Article

References (10)

1. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
2. Clinical and molecular genetics of primary dystonias
3. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
4. Lessons from a remarkable family with dopa-responsive dystonia
5. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
6. Dopa-responsive dystonia: A clinical and molecular genetic study
7. Dopa-responsive dystonia: Long-term treatment response and prognosis
8. Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I
9. Dopa responsive dystonia with Turner's syndrome: Clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene
10. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes