Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

Brain and Development

Volumn 22, Issue SUPPL. 1, 2000, Pages 107-110

  Ichinose, Hiroshi ^a   Inagaki, Hidehito ^a   Suzuki, Takahiro ^a   Ohye, Tamae ^a   Nagatsu, Toshiharu ^a  

^a FUJITA HEALTH UNIVERSITY   (Japan)

Author keywords

Basal ganglia; Guanosine triphosphate cyclohydrolase I, Tyrosine hydroxylase, Dopamine; Tetrahydrobiopterin

Indexed keywords

DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MESSENGER RNA; NEOPTERIN; TETRAHYDROBIOPTERIN;

ALLELE; BLOOD BRAIN BARRIER; CEREBROSPINAL FLUID; CIRCADIAN RHYTHM; CONFERENCE PAPER; CORPUS STRIATUM; DOMINANT INHERITANCE; DOPAMINE BRAIN LEVEL; DYSTONIA; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; MONONUCLEAR CELL; MOUSE; NONHUMAN; SEGAWA DISEASE; SEX DIFFERENCE;

EID: 0033846461     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0387-7604(00)00136-4     Document Type: Conference Paper

References (18)

1. Segawa M., Ohmi K., Ito S., Aoyama M., Hayakawa H. Childhood basal ganglia disease with remarkable response to L-DOPA, hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo (Tokyo). 24:1971;667-672. [in Japanese].
2. Segawa M., Hosaka A., Miyagawa F., Nomura Y., Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Eldrige R., Fahn S. Advances in neurology. 1976;215-233 Raven Press, New York.
3. Nygaard T.G., Marsden C.D., Duvoisin R.C. Dopa-responsive dystonia. Adv Neurol. 50:1988;377-384.
4. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet. 8:1994;236-242.
5. Nagatsu T., Levitt M., Udenfriend S. Tyrosine hydroxylase:-the initial step in norepinephrine biosynthesis. J Biol Chem. 239:1964;2910-2917.
6. Williams A., Eldridge R., Levine R., Lobenberg W., Paulson G. Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia. Lancet. 2:(8139):1979;410-411.
7. LeWitt P.A., Miller L.P., Levine R.A., Lovenberg W., Newman R.P., Papavasiliou A., et al. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. Neurology. 36:1986;760-764.
8. Fink J.K., Ravin P., Argoff C.E., Levine R.A., Brady R.O., Hallett M., et al. Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation. Neurology. 39:1989;1393-1395.
9. Furukawa Y., Nishi K., Kondo T., Mizuno Y., Narabayashi H. CSF biopterin levels and clinical features of patients with juvenile parkinsonism. Narabayashi H., Nagatsu T., Yanagisawa Y., Mizuno Y. Advances in neurology. 1993;562-567 Raven Press, New York.
10. Segawa M., Nomura Y., Kase M. Diurnally fluctuating hereditary progressive dystonia. Vinken P.J., Bruyn G.W., Klawans H.L. Handbook of clinical neurology. 1986;529-539 Elsevier, New York.
11. Takahashi H., Levine R.A., Galloway M.P., Snow B.J., Calne D.B., Nygaard T.G. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol. 35:1994;354-356.
12. Bernheimer H., Birkmayer W., Hornykiewicz O., Jellinger K., Seitelberger F. Brain dopamine and the syndromes of Parkinson and Huntington Clinical, morphological and neurochemical correlations. J Neurol Sci. 20:1973;415-455.
13. Hirano M., Yanagihara T., Ueno S. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. Ann Neurol. 44:1998;365-371.
14. Inagaki H., Ohye T., Suzuki T., Segawa M., Nomura Y., Nagatsu T., et al. Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation (HPD). Biochem Biophys Res Commun. 260:1999;747-751.
15. Suzuki T., Ohye T., Inagaki H., Nagatsu T., Ichinose H. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relation to etiology of dopa-responsive dystonia. J Neurochem. 73:1999;2510-2516.
16. Furukawa Y., Shimadzu M., Rajput A.H., Shimizu Y., Tagawa T., Mori H., et al. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol. 39:1996;609-617.
17. 14C]tetrahydrobiopterin and its developmental change in mice. J Pharmacol Exp Ther. 267:1993;971-978.
18. Niederwieser A., Blau N., Wang M., Joller P., Atares M., Cardesa-Garcia J. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr. 141:1984;208-214.