Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity

Human Molecular Genetics

Volumn 5, Issue 3, 1996, Pages 403-406

  Bandmann, Oliver ^a   Nygaard, Torbjoern G ^b   Surtees, Robert ^c   Marsden, C David ^a   Wood, Nicholas W ^a   Harding, Anita E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Columbia University ^*  (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DYSTONIA; EXON; FEMALE; GENE AMPLIFICATION; GENE ISOLATION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INTRON; JAPAN; MALE; POINT MUTATION; PRIORITY JOURNAL; STOP CODON; UNITED KINGDOM;

DOPAMINE AGENTS; DYSTONIA; ENGLAND; FEMALE; GENETIC HETEROGENEITY; GTP CYCLOHYDROLASE; HETEROZYGOTE; HUMANS; LEVODOPA; MALE; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 0030059804     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.3.403     Document Type: Article

References (20)

1. Beck, D.K. (1947) Dystonia musculorum deformans with another case in the same family. Proc. R. Soc. Med., 40, 551-552.
2. Segawa, M., Hosaka, A., Miyagawa, F., Nomura, Y. and Imai, H (1976) Hereditary progressive dystonia with marked diurnal variation. Adv. Neurol., 14, 215-233.
3. Nygaard, T.G , Marsden, C.D. and Duvoisin, R.C. (1988) Dopa-responsive dystonia. Adv. Neurol , 50, 377-384.
4. Nygaard, T.G., Takahashi, H., Heiman, G.A., Snow, B.J., Fahn, S. and Calne, D.B. (1992) Long-term treatment response and fluordopa position emission tomographic scanning of parkinsonism in a family with dopa-responsive dystoma. Ann. Neurol., 32, 603-608.
5. Nygaard, T.G., Trugman, J.M., Yebenes, J.G. and Fahn, S. (1990) Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology, 40, 66-69.
6. Nygaard, T.G. (1995) Dopa-responsive dystonia. Curr. Opin. Neurol., 8, 310-313.
7. Nygaard, T.G., Wilhelmsen, K.C., Risch, N.J., Brown, D.L., Trugman, J.M., Gilliam, T.C., Fahn, S. and Weeks, D.E. (1993) Linkage of dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet., 5, 386-391.
8. Tanaka, H., Endo, K., Tsuyi, S., Nygaard, T.G., Weeks, D.E., Nomura, Y. and Segawa, M. (1995) The gene for hereditary progressive dystonia with marked diurnal fluctuation (HPD) maps to chromosome 14q. Ann. Neurol., 37, 405-408.
9. Nygaard, T.G., Barclay, C.L., Segawa, M., Fletcher, N.A., Duff, J., Nomura, Y., Harding, A.E., Lang, A.E., Wilhelmsen, K.C., St George-Hyslop, P.H., Tsuji, S., Fahn, S., Risch, N.J. and Weeks, D.E. (1994) Genetic linkage mapping of dopa-responsive dystonia (DRD) (Abstract). Neurology. 44(suppl 2), A293.
10. Thöny, B., Heizmann, C.W. and Mattei, M.-G. (1995) Human GTP-Cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization. Genomics, 26, 168-170.
11. 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. (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet., 8, 236-241
12. Kaufman, S. (1959) Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. J. Biol. Chem., 234, 2677-2682.
13. Nagatsu, T., Levitt, M. and Udenfriend, S. (1964) Tyrosine hydroxylase: the initial step in norepinephrine biosynthesis. J. Biol. Chem., 239, 2910-2917.
14. Lüdecke, B. Dworniczak, B. and Bartholome, K. (1995) A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet., 95, 123-125.
15. Knappskog, P.M., Flatmark, T., Mallet, J., Lüdecke, B. and Bartholome, K. (1995) Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet., 4, 1209-1212.
16. Togari, A., Ichinose, H , Matsumoto, S., Fujita, K. and Nagatsu T. (1992) Multiple mRNA forms of human GTP cyclohydrolase. Biochem. Biophys. Res. Commmun., 187, 359-365.
17. Nar, H., Huber, R , Meining, W., Schmid, C , Weinkauf, S , Bacher, A. (1995) Atomic structure of GTP cyctohydrolase I. Structure, 3, 459-466.
18. Ichinose, H., Ohnye, T., Matsuda, Y., Hori, T., Blau, N., Burlina, A., Rouse, B., Matalon, R., Fujita, K. and Toshiharu, N. (1995) Characterization of mouse and human GTP cyclohydrolase I genes. J. Biol Chem., 270, 10062-10071.
19. Howells, D.W., Smith, I., Hyland, K. (1986) Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed phase HPLC with electrochemical and fluorescence detection. J. Chromatogr., 381, 285-294.
20. Hyland, K , Surtees R , Heales, S.J.R., Bowron, A., Howells, D.W., Smith, I. (1993) Cererbrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr. Res., 34, 10-14.