Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (T-H) gene mutations

Neurology

Volumn 56, Issue 2, 2001, Pages 260-263

  Furukawa, Yoshiaki ^a   Graf, W D ^b   Wong, H ^a   Shimadzu, M ^c   Kish, S J ^a  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c LSI MEDIENCE CORPORATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA; TYROSINE 3 MONOOXYGENASE;

ARTICLE; CASE REPORT; DISEASE SIMULATION; DNA SEQUENCE; DYSTONIA; ENZYME DEFICIENCY; EXERCISE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; RIGIDITY; SCHOOL CHILD; SPASTIC PARAPLEGIA; TREATMENT OUTCOME;

EID: 0035936609     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.2.260     Document Type: Article

References (10)

1. Dopa-responsive dystonia: Recent advances and remaining issues to be addressed
2. Hereditary progressive dystonia/dopa-responsive dystonia
3. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
4. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
5. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?
6. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
7. Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals
8. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome)
9. Crystal-structure of tyrosine hydroxylase at 2.3 Å and its implications for inherited neurodegenerative diseases
10. Genetics, biochemistry, and molecular basis of variant human phenotypes