GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia

Annals of Neurology

Volumn 39, Issue 5, 1996, Pages 609-617

  Furukawa, Yoshiaki ^a,f   Shimadzu, Mitsunobu ^b   Rajput, Ali H ^g   Shimizu, Yumiko ^a   Tagawa, Tetsuzo ^e   Mori, Hideo ^a   Yokochi, Masayuki ^c   Narabayashi, Hirotaro ^d   Hornykiewicz, Oleh ^h   Mizuno, Yoshikuni ^a   Kish, Stephen J ^f  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b LSI MEDIENCE CORPORATION   (Japan)

^c Department of Dentistry Oral surgery   (Japan)

^d Neurological Clinic   (Japan)

^e OSAKA KOSEI NENKIN HOSPITAL   (Japan)

^f CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^g ROYAL UNIVERSITY HOSPITAL   (Canada)

^h UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

DOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; NEOPTERIN; TETRAHYDROBIOPTERIN;

ARTICLE; BRAIN LEVEL; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; DIFFERENTIAL DIAGNOSIS; DYSTONIA; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; NONSENSE MUTATION; PARKINSONISM; PATHOGENESIS; PRIORITY JOURNAL; RACE DIFFERENCE;

ADOLESCENT; ADULT; ANTIOXIDANTS; BASE SEQUENCE; BIOPTERIN; BRAIN; CHILD; CLONING, MOLECULAR; CODON, NONSENSE; DOPAMINE AGENTS; DYSTONIA; ENGLAND; FEMALE; GTP CYCLOHYDROLASE; HUMANS; IRELAND; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NEOPTERIN; POINT MUTATION;

EID: 0029931119     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390510     Document Type: Article

References (38)

1. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. In: Fahn S, Marsden CD, Calne DB, eds. Advances in neurology, vol 50: dystonia 2. New York: Raven Press, 1988:377-384
2. Nygaard TG, Snow BJ, Fahn S, Calne DB. Dopa-responsive dystonia: clinical characteristics and definition. In: Segawa M, ed. Hereditary progressive dystonia with marked diurnal fluctuation. Lanes: Parthenon Publishing, 1993:21-35
3. Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. In: Eldridge R, Fahn S, eds. Advances in neurology, vol 14: dystonia. New York: Raven Press, 1976:215-233
4. Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, ed. Hereditary progressive dystonia with marked diurnal fluctuation. Lanes: Parthenon Publishing, 1993:3-19
5. Nygaard TG, Wilhelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet 1993;5:386-391
6. Tanaka H, Endo K, Tsuji S, et al. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann Neurol 1995;37:405-408
7. Rajput AH, Gibb WRG, Zhong XH, et al. Dopa-responsive dystonia: pathological and biochemical observations in a case. Ann Neurol 1994;35:396-402
8. Furukawa Y, Mizuno Y. Young-onset Parkinson's disease. Neurol Med 1994;41:213-223
9. Furukawa Y, Mizuno Y, Nishi K, Narabayashi H. A clue to the pathogenesis of dopa-responsive dystonia. Ann Neurol 1995;37:139-140
10. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994;8:236-242
11. Furukawa Y, Mizuno Y, Narabayashi H. Early-onset parkinsonism with dystonia: clinical and biochemical differences from hereditary progressive dystonia or dopa-responsive dystonia. In: Battistin L, Scarlato G, Caraceni T, Ruggieri S, eds. Advances in neurology, vol 69: Parkinson's disease. Philadelphia: Lippincott-Raven Press, 1996:327-337
12. Yokochi M, Narabayashi H, Iizuka R, Nagatsu T. Juvenile parkinsonism: some clinical, pharmacological, and neuropathological aspects. In: Hassler RG, Christ JF, eds. Advances in neurology, vol 40: Parkinson-specific motor and mental disorders, role of the pallidum: pathophysiological, biochemical, and therapeutic aspects. New York: Raven Press, 1984:407-413
13. Narabayashi H, Yokochi M, Iizuka R, Nagatsu T. Juvenile parkinsonism. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of clinical neurology, vol 5(49): extrapyramidal disorders. Amsterdam: Elsevier, 1986:153-165
14. Mizutani Y, Yokochi M, Oyanagi S. Juvenile parkinsonism: a case with first clinical manifestation at the age of six years and with neuropathological findings suggesting a new pathogenesis. Clin Neuropathol 1991;10:91-97
15. Gibb WRG, Narabayashi H, Yokochi M, et al. New pathologic observations in juvenile onset parkinsonism with dystonia. Neurology 1991;41:820-822
16. Levine RA, Miller LP, Lovenberg W. Tetrahydrobiopterin in striatum; localization in dopamine nerve terminals and role in catecholamine synthesis. Science 1981;214:919-921
17. Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP-cyclohydrolase I genes. J Biol Chem 1995;270:10062-10071
18. Smith LM, Sanders JZ, Kaiser RJ, et al. Fluorescence detection in automated DNA sequence analysis. Nature 1986;321:674-679
19. Blau N, Joller P, Atares M, et al. Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency. Clin Chim Acta 1985;148:47-52
20. Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-2770
21. Furukawa Y, Nishi K, Kondo T, et al. CSF biopterin levels and clinical features of patients with juvenile parkinsonism. In: Narabayashi H, Nagatsu T, Yanagisawa N, Mizuno Y, eds. Advances in neurology, vol 60: Parkinson's disease: from basic research to treatment. New York: Raven Press, 1993:562-567
22. Furukawa Y, Nishi K, Kondo T, et al. Juvenile parkinsonism: ventricular CSF biopterin levels and clinical features. J Neurol Sci 1992;108:207-213
23. Furukawa Y, Nishi K, Kondo T, et al. Significance of CSF total neopterin and biopterin in inflammatory neurological diseases. J Neurol Sci 1992;111:65-72
24. Togari A, Ichinose H, Matsumoto S, et al. Multiple mRNA forms of human GTP cyclohydrolase I. Biochem Biophys Res Commun 1992;187:359-365
25. Bressman SB, Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-777
26. Graeber MB, Kupke KG, Muller U. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc Natl Acad Sci USA 1992;89:8245-8248
27. Nygaard TG. Dopa-responsive dystonia. In: Tsui JKC, Calne DB eds. Neurological disease and therapy, vol 39: handbook of dystonia. New York: Marcel Dekker, 1995:213-226
28. Heberlein I, Vieregge P, Steinberger D, et al. A new family with dopa-responsive dystonia and linkage mapping to chromosome 14q: dopa-responsive neuropsychology. Ann Neurol 1995;38:300 (Abstract)
29. Mount SM. A catalogue of splice junction sequences. Nucleic Acids Res 1982;10:459-472
30. Blau N, Ichinose H, Nagatsu T, et al. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J Pediatr 1995;126: 401-405
31. Wachter H, Fuchs D, Hausen A, et al. Neopterin as marker for activation of cellular immunity: immunologic basis and clinical application. Adv Clin Chem 1989;27:81-141
32. Fujita S, Shintaku H. The pathogenesis of hereditary progressive dystonia with marked diurnal fluctuation (HPD) and a metabolic abnormality of pteridines. Med J Kushiro City Hosp 1990;2:64-67
33. LeWitt PA, Miller LP, Levine RA, et al. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. Neurology 1986;36:760-764
34. Fink JK, Ravin P, Argoff CE, et al. Tetrahydrobiopterin administration in biopterin-dependent progressive dystonia with diurnal variation. Neurology 1989;39:1393-1395
35. Ishida A, Takada G. Effect of tetrahydrobiopterin and 5-hydroxytryptophan on hereditary progressive dystonia with marked diurnal fluctuation: a suggestion of serotonergic system involvement. In: Segawa M, ed. Hereditary progressive dystonia with marked diurnal fluctuation. Lanes: Parthenon Publishing, 1993:125-132
36. Kondo T, Miwa H, Furukawa Y, et al. Tetrahydrobiopterin therapy for juvenile parkinsonism. In: Segawa M, ed. Hereditary progressive dystonia with marked diurnal fluctuation. Lanes: Parthenon Publishing, 1993:133-140
37. Sawada M, Hirata Y, Arai H, et al. Tyrosine hydroxylase, tryptophan hydroxylase, biopterin, and neopterin in the brains of normal controls and patients with senile dementia of Alzheimer type. J Neurochem 1987;48:760-764
38. Furukawa Y, Kondo T, Nishi K, et al. Total biopterin and neopterin levels in the ventricular CSF of patients with Parkinson's disease. In: Nagatsu T, Fisher A, Yoshida M, eds. Basic, clinical, and therapeutic aspects of Alzheimer s and Parkinson's diseases, vol 2. New York: Plenum Press, 1990:49-52