Dopa-responsive dystonia: A clinical and molecular genetic study

Annals of Neurology

Volumn 44, Issue 4, 1998, Pages 649-656

  Bandmann, O ^a,f   Valente, E M ^a   Holmans, P ^c   Surtees, R A H ^b   Walters, J H ^d   Wevers, R A ^e   Marsden, C D ^a   Wood, N W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

ARTICLE; CHROMOSOME 9P; CLINICAL ARTICLE; CLINICAL EXAMINATION; DYSTONIA; ENZYME DEFICIENCY; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; MOLECULAR GENETICS; PHENYLKETONURIA; POINT MUTATION; PRIORITY JOURNAL;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DIHYDROXYPHENYLALANINE; DNA MUTATIONAL ANALYSIS; DNA, RECOMBINANT; DYSTONIA; FEMALE; GENE DELETION; GENES, REGULATOR; GTP CYCLOHYDROLASE; HUMANS; MALE; PHENOTYPE; PHENYLKETONURIAS; POINT MUTATION;

EID: 0031784841     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440411     Document Type: Article

References (33)

1. Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14: 215-233
2. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242
3. Bandmann O, Nygaard T, Surtees T, et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5:403-406
4. Ichinose H, Ohye T, Segawa M, et al. GTP-cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Lett 1995;196:5-8
5. Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes. J Biol Chem 1995;270:10062-10071
6. Furukawa Y, Shimadzu M, Rajput A, et al. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol 1996;39:608-617
7. Beyer K, Lao-Villadoniga J, Vecino-Bilbao B, et al. A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia. J Neurol Neurosurg Psychiatry 1997;62:420-421
8. Cooper D, Krawczak M. Human gene mutation. Oxford: BIOS Scientific, 1993
9. Duncan B, Miller J. Mutagenic deamination of cytosine residues in DNA. Nature 1980;287:560-561
10. Kramer B, Kramer W, Fritz H-J. Different base/base mismatches are corrected with different efficiencies by the methyl-directed DNA mismatch-repair system of E. coli. Cell 1984;38: 879-887
11. Bandmann O, Daniel S, Marsden CD, et al. The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study. J Neurol Sci 1996;141:27-32
12. Lance J. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2: 285-293
13. Plant G, Williams A, Earl C, Marsden CD. Familial paroxysmal dystonia induced by exercise. J Neurol Neurosurg Psychiatry 1984;47:275-279
14. Deonna T, Roulet E, Ghika J, Zesiger P. Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise. Dev Med Child Neurol 1997;39:49-53
15. Fahn S. The paroxysmal dyskinesias. In: Marsden C, Fahn S, eds. Movement disorders 3. Oxford: Butterworth-Heinemann, 1994:310-345
16. Ozelius L, Hewett J, Page C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48
17. Jarman P, Bandmann O, Marsden CD, Wood N. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J Neurol Neurosurg Psychiatry 1997;63: 304-308
18. Richard I, Beckman J. How neutral are synonymous codon mutations? Nat Genet 1995;10:259 (Lettet)
19. Luedecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995;95:123-125
20. Kurata H, Kamoshita K, Kawai E, et al. The 5′ untranslated region of the human cellular glutathione peroxidase gene is indispensable for its expression in COS-7 cells. FEBS Lett 1992; 312:10-14
21. Mittanck D, Kim S-W, Rotwein P. Essential promoter elements are located within the 5′ untranslated region of human insulin-like growth factor-I exon I. Mol Cell Endocrinol 1997; 126:153-163
22. Villard E, Tiret L, Visvikis S, et al. Identification of new polymorphisms of the angiotensin I-converting enzyme (ACE) gene, and study of their relationship to plasma ACE levels by two-QTL segregation-linkage analysis. Am J Hum Genet 1996;58: 1268-1278
23. Blau N, Thoeny B, Heizmann C, Dhondt J-L. Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 1993; 4:1-10
24. Fink J, Barton N, Cohen W, et al. Dystonia associated with marked diurnal variation associated with biopterin deficiency. Neurology 1988;38:707-711
25. Nygaard T. Dopa-responsive dystonia. Adv Neurol 1993;60: 577-585
26. Nygaard T, Trugman J, Yebenes J, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990;40:66-69
27. Deonna T, Ferreira A. Idiopathic fluctuating dystonia: a case of foot dystonia and writer's cramp responsive to L-dopa. Dev Med Child Neurol 1985;27:819-821
28. Di Capua M, Bertini E. Remission in dihydroxyphenylalanine-responsive dystonia. Mov Disord 1995;10:223 (Letter)
29. Fink J, Rainer S, Wilkowski J, et al. Paroxysmal dystonic choreoathetosis: right linkage to chromosome 2q. Am J Hum Genet 1996;59:140-145
30. Fouad G, Servidei S, Durcan S, et al. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 1996;59:135-139
31. Thoeny B, Blau N. Mutations in the GTP-cyclohydrolase I and 6-pyruvoyl-tetrahydrobipterin synthase genes. Hum Mutat 1997;10:11-20
32. Hirano M, Tamaru Y, Ito H, et al. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset. Ann Neurol 1996;40:796-798
33. Hirano M, Imaiso Y, Ueno S. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Biochem Biophys Res Commun 1997;234:316-319