Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families

Clinical Genetics

Volumn 74, Issue 6, 2008, Pages 513-521

  Wu, Zhi Ying ^a,b   Lin, B ^b   Chen, B ^b   Zhao, G X ^a   Xie, H ^b   Murong, S X ^b   Wang, N ^b  

^a FUDAN UNIVERSITY   (China)

^b FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Chinese; Dopa responsive dystonia; GTP cyclohydrolase 1; Parkin; Tyrosine hydroxylase

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; PARKIN; TYROSINE 3 MONOOXYGENASE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOPA RESPONSIVE DYSTONIA; DYSTONIA; ETHNICITY; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; MALE; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; ONSET AGE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; QUANTITATIVE ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS; SEX DIFFERENCE;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BENSERAZIDE; CHILD; CHILD, PRESCHOOL; DOPAMINE AGENTS; DRUG COMBINATIONS; DYSTONIA; FEMALE; GENETIC VARIATION; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TYROSINE 3-MONOOXYGENASE; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 56749170899     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01039.x     Document Type: Article

References (32)

1. Segawa M, Hosaka A, Miyagawa F et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976: 14: 215-233.
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. Lancs, UK: Parthenon Publishing, 1993: 21-35.
3. Nygaard TG, Trugman JM, de Yebenes JG et al. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990: 40: 66-69.
4. Furukawa Y. Update on dopa-responsive dystonia: Locus heterogeneity and biochemical features. Adv Neurol 2004: 94: 127-138.
5. Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol 1995: 8: 310-313.
6. Nygaard TG, Wilhelmsen KC, Risch NJ et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 1993: 5: 386-391.
7. 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.
8. Bandmann O, Valente EM, Holmans P et al. Dopa-responsive dystonia: A clinical and molecular genetic study. Ann Neurol 1998: 44: 649-656.
9. Steinberger D, Korinthenberg R, Topka H et al. Dopa-responsive dystonia: mutation analysis of GCHI and analysis of therapeutic doses of L-dopa. Neurology 2000: 55: 1735-1737.
10. Uncini A, De Angelis MV, Di Fulvio P et al. Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation. Mov Disord 2004: 19: 1139-1145.
11. Hagenah J, Saunders-Pullman R, Hedrich K et al. High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening. Neurology 2005: 64: 908-911.
12. Knappskog PM, Flatmark T, Mallet J et al. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995: 4: 1209-1212.
13. Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995: 95: 123-125.
14. Ludecke B, Knappskog PM, Clayton PT et al. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996: 5: 1023-1028.
15. van den Heuvel LP, Luiten B, Smeitink JA et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum Genet 1998: 102: 644-646.
16. Hattori N, Kitada T, Matsumine H et al. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the parkin gene in affected individuals. Ann Neurol 1998: 144: 935-941.
17. Xie H, Wu ZY, Wang N et al. Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene. Zhonghua Er Ke Za Zhi 2006: 44: 492-495 (in Chinese).
18. Liu W, Tang BS, Cao GF et al. TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004: 21: 452-454 (in Chinese).
19. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1998: 50: 377-384.
20. Wu ZY, Zhao GX, Chen WJ et al. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med 2006: 84: 438-442.
21. Togari A, Ichinose H, Matsumoto S et al. Multiple mRNA forms of human GTP cyclohydrolase I. Biochem Biophys Res Commun 1992: 187: 359-365.
22. Wu DY, Ugozzoli L, Pal BK et al. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci U S A 1989: 86: 2757-2760.
23. Klein C, Hedrich K, Mohrmann K et al. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002: 59: 1783-1786.
24. Fukukawa Y, Guttmann M, Sparagana SP et al. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000: 47: 517-520.
25. Hong KM, Kim YS, Paik MK. A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. Hum Hered 2001: 52: 59-60.
26. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003: 31: 3812-3814.
27. Wang T, Liang Z, Sun S et al. A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003: 20: 111-113.
28. Satoh J, Kuroda Y. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease. Neuroreport 1999: 10: 2735-2739.
29. Klein C, Schlossmacher MG. The genetics of Parkinson disease: implications for neurological care. Nat Clin Pract Neurol 2006: 2: 136-146.
30. Segawa M, Nomura Y, Yukishita S et al. Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/ dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene? Adv Neurol 2004: 94: 217-223.
31. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003: 54 (Suppl. 6): S32-S45.
32. Segawa M, Hoshino K, Hachimori K, Nishiyama N, Nomura Y. A single gene for dystonia involves both or either of the two striatal pathways. In: Nicholson LFB, Faull RLM, eds. The basal ganglia VII, advances in behavioral biology. New York, NY: Plenum Publishers/Kluwer Academic, 2002: 155-163.