Molecular genetics of hereditary dystonia - Mutations in the GTP cyclohydrolase I gene

Brain Research Bulletin

Volumn 43, Issue 1, 1997, Pages 35-38

  Ichinose, Hiroshi ^a   Nagatsu, Toshiharu ^a  

^a Fujita Health University   (Japan)

Author keywords

GTP cyclohydrolase I; GTP cyclohydrolase I deficiency; Hereditary progressive dystonia; Parkinson's disease; Tetrahydrobiopterin; Tyrosine hydroxylase

Indexed keywords

DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; TETRAHYDROBIOPTERIN; TYROSINE 3 MONOOXYGENASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASAL GANGLION; CIRCADIAN RHYTHM; DOPAMINE METABOLISM; DOPAMINERGIC NERVE CELL; DYSTONIA; GENE MUTATION; HUMAN; MOLECULAR GENETICS; NIGRONEOSTRIATAL SYSTEM; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL;

CHILD; DYSTONIA; GENES, DOMINANT; GENES, RECESSIVE; GTP CYCLOHYDROLASE; HUMANS; MUTATION; PARKINSON DISEASE; TYROSINE 3-MONOOXYGENASE;

EID: 0030964262     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0361-9230(96)00353-X     Document Type: Article

References (26)

1. 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.
2. Blau N., Ichinose H., Nagatsu T., Heizmann C. W., Zacchello F., Burlina A. B. A missence mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J. Pediatr. 126:1995;401-405.
3. Görke W., Bartholomé K. Biochemical and neurophysiological investigation in two forms of Segawa's Disease. Neuropediatrics. 21:1990;3-8.
4. Hirano M., Tamaru Y., Nagai Y., Ito H., Imai T., 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 dystonia/dopa responsive dystonia. Biochem. Biophys. Res. Commun. 213:1995;645-651.
5. Ichinose H., Ohye T., Fujita K., Pantucek F., Lange K., Riederer P., Nagatsu T. Quantification of mRNA of tyrosine hydroxylase and aromatic L-amino acid decarboxylase in the substantia nigra in Parkinson's disease and schizophrenia. J. Neural Transm. [P-D Sect]. 8:1994;149-158.
6. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., Fujita K., Nagatsu T. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8:1994;236-242.
7. Ichinose H., Ohye T., Matsuda Y., Hori T., Blau N., Burlina A., Rouse B., Matalon R., Fujita K., Nagatsu T. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J. Biol. Chem. 270:1995;10062-10071.
8. Ichinose H., Ohye T., Yokochi M., Fujita K., Nagatsu T. GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism. Neurosci. Lett. 190:1995;140-142.
9. Ichinose H., Ohye T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., Fujita K., Nagatsu T. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci. Lett. 196:1995;5-8.
10. Knappskog P. M., Flatmark T., Mallet J., Lüdecke B., Bartholomé K. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrsosine hydroxylase gene. Hum. Mol. Genet. 4:1995;1209-1212.
11. Lüdecke B., Dworniczak B., Bartholomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 95:1995;123-125.
12. Nagatsu T. Tyrosine hydroxylase: Human isoforms, structure and regulation in physiology and pathology. Apps D. K., Tipton K. F. Essays in biochemistry. 30:1995;15-35 Portland Press, London.
13. Nagatsu T., Yamaguchi T., Rahman M. K., Trocewicz O., Oka K., Hirata Y., Nagatsu I., Narabayashi H., Kondo T., Iizuka R. Catecholamine-related enzymes and the biopterin cofactor in Parkinson's disease and related extrapyramidal diseases. Hassler R. G., Christ J. F. Advances in neurology. 40:1984;467-473 Raven Press, New York.
14. Nagatsu T., Horikoshi T., Sawada M., Nagatsu I., Kondo T., Iizuka R., Narabayashi H. Biosynthesis of tetrahydrobiopterin in parkinsonian human brain. Yahr M. D., Bergmann K. J. Advances in neurology. 45:1986;223-226 Raven Press, New York.
15. Narabayashi H., Yokochi M., Iizuka R., Nagatsu T. Juvenile parkinsonism. Vinken P. J., Bruyn G. W., Klawans H. L. Handbook of experimental neurology. 49:1986;153-165 Elsevier, Amsterdam.
16. Niederwieser A., Blau N., Wang M., Joller P., Atarés 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.
17. Nygaard T. G., Marsden C. D., Duvoisin R. C. Dopa-responsive dystonia. Fahn S., et al. Advances in neurology. 50:1988;377-384 Raven Press, New York.
18. Nygaard T. G., Snow B. J., Fahn S., Calne D. B. Dopa-responsive dystonia: Clinical characteristics and definition. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 1993;21-35 Parthenon, Califorth, UK.
19. Nygaard T. G., Wilhelmsen K. C., Risch N. J., Brown D. L., Trugman J. M., Gilliam T. C., Fahn S., Weeks D. E. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat. Genet. 5:1993;386-391.
20. Rajput A. H., Gibb W. R. G., Zhong X. H., Shannak K. S., Kish S., Chang L. G., Hornykiewicz O. Dopa-responsive dystonia: Pathological and biochemical observations in a case. Ann. Neurol. 35:1994;396-402.
21. Segawa M., Ohmi K., Itoh 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.
22. Segawa M., Hosaka A., Miyagawa F., Nomura Y., Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Eldridge R., Fahn S. Advances in neurology. 14:1976;215-233 Raven Press, New York.
23. Segawa M., Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. 14:1993;3-19 Parthenon, Califorth, UK.
24. Tanaka H., Endo K., Tsuji S., Nygaard T. G., Weeks D. E., Nomura Y., Segawa M. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann. Neurol. 37:1995;405-408.
25. okochi M., Narabayashi H., Iizuka R., Nagatsu T. Juvenile parkinsonism - Some clinical, pharmacological, and neuropathological aspects. Hassler R. G., Christ J. F. Advances in neurology. 40:1984;407-413 Raven Press, New York.
26. Yokochi M. Nosological concept of juvenile parkinsonism with reference to the dopa-responsive dystonia. Narabayashi H., Nagatsu T., Yanagisawa N., Mizuno Y. Advances in neurology. 60:1993;548-552 Raven Press, New York.