Genetic Basis of Dominant Dystonia

Advances in Pharmacology

Volumn 42, Issue C, 1997, Pages 44-47

  Nagatsu, T ^a   Ichinose, H ^a  

^a FUJITA HEALTH UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77956732225     PISSN: 10543589     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1054-3589(08)60691-2     Document Type: Article

References (10)

1. Segawa M., Ohmi K., Itoh S., Acyama M., and Hayakawa H. Childhood basal ganglia disease with remarkable response to L-dopa, hereditary basal ganglia disease with marked diurnal fluctuation. Shinyo (Tokyo) 24 (1971) 667-672
2. Nygaard T.G., Wilhelmsen K.C., Risch N.J., Brown D.L., Trugman J.M., Gilliam T.C., Fahn S., and Week D.E. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet. 5 (1993) 386-391
3. Tanaka H., Endo K., Tsuji S., Nygaard T.G., Weeks D.E., Nomura Y., and Segawa M. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann. Neurol. 37 (1995) 405-408
4. Ichinose H., Ohye T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., Fujita K., and Ichinose H. J. Biol. Chem. 270 (1995) 10062-10071
5. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., Fujita K., and Nagatsu T. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8 (1994) 236-242
6. Ichinose H., Ohye T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., Fujita K., and Nagatsu T. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci. Lett. 196 (1995) 5-8
7. Hirano M., Tamaru Y., Nagai Y., Ito H., Imai T., and Ueno S. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonialdopa responsive dystonia. Biochem. Biophys. Res. Commun. 213 (1995) 645-651
8. Bandmann O., Nygaard T.G., Surtees R., Marsden C.D., Wood N.W., and Harding A.E. Dopa-responsive dyatonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum. Mol. Genet. 5 (1996) 403-406
9. Furukawa Y., Shimadzu M., Rajput A.H., Shimizu Y., Tagawa T., Mori H., Yokochi M., Narabayashi H., Hornykiewicz O., Mizuno Y., and Kish S.J. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann. Neurol. 39 (1996) 609-617
10. Lüdecke B., Dworniczak B., and Bartholomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Human Genet. 95 (1995) 123-125