메뉴 건너뛰기




Volumn 25, Issue 4, 2010, Pages 447-451

GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia

Author keywords

Clinical feature; Dopa responsive dystonia; GCH1 gene

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; TRIHEXYPHENIDYL;

EID: 77949529930     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22976     Document Type: Article
Times cited : (22)

References (27)
  • 1
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233.
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 3
    • 0025124542 scopus 로고
    • Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
    • Nygaard TG, Trugman JM, de Yebenes JG, Fahn S. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990;40:66-69.
    • (1990) Neurology , vol.40 , pp. 66-69
    • Nygaard, T.G.1    Trugman, J.M.2    de Yebenes, J.G.3    Fahn, S.4
  • 4
    • 0030059804 scopus 로고    scopus 로고
    • Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
    • Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. 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.
    • (1996) Hum Mol Genet , vol.5 , pp. 403-406
    • Bandmann, O.1    Nygaard, T.G.2    Surtees, R.3    Marsden, C.D.4    Wood, N.W.5    Harding, A.E.6
  • 5
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • 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 genetics 1994;8:236-242.
    • (1994) Nature genetics , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 6
    • 70449306145 scopus 로고
    • Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine
    • Kaufman S. Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 1959;234:2677-2682.
    • (1959) J Biol Chem , vol.234 , pp. 2677-2682
    • Kaufman, S.1
  • 7
    • 77949518375 scopus 로고    scopus 로고
    • Molecular genetics of dopa-responsive dystonia in Chinese
    • Zhang S, Zheng H, Xie H, Ren D. Molecular genetics of dopa-responsive dystonia in Chinese. Acad J Sec Mil Med Univ 2002;23:1223-1226.
    • (2002) Acad J Sec Mil Med Univ , vol.23 , pp. 1223-1226
    • Zhang, S.1    Zheng, H.2    Xie, H.3    Ren, D.4
  • 8
    • 17244381612 scopus 로고    scopus 로고
    • The mutations in GTP-cyclohydrolase I gene in Chinese patients with dopa responsive dystonia
    • Zhou HY, Zhang BS. The mutations in GTP-cyclohydrolase I gene in Chinese patients with dopa responsive dystonia. Chin J Neurol 2005;38:42-45.
    • (2005) Chin J Neurol , vol.38 , pp. 42-45
    • Zhou, H.Y.1    Zhang, B.S.2
  • 9
    • 56749181566 scopus 로고    scopus 로고
    • Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene
    • Xie H, Wu ZY, N. W, Li ZW, Lin MT, Murong SX. Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene. Zhonghua Er Ke Za Zhi 2006;44:492-495.
    • (2006) Zhonghua Er Ke Za Zhi , vol.44 , pp. 492-495
    • Xie, H.1    Wu2    ZY, N.W.3    Li, Z.W.4    Lin, M.T.5    Murong, S.X.6
  • 10
    • 34250904150 scopus 로고    scopus 로고
    • Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia
    • Li J, Tang BS, Guo JF, et al. Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007;24:302-304.
    • (2007) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.24 , pp. 302-304
    • Li, J.1    Tang, B.S.2    Guo, J.F.3
  • 11
    • 56749170899 scopus 로고    scopus 로고
    • Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families
    • Wu ZY, Lin Y, Chen WJ, et al. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. Clin Genet 2008;74:513-552.
    • (2008) Clin Genet , vol.74 , pp. 513-552
    • Wu, Z.Y.1    Lin, Y.2    Chen, W.J.3
  • 12
    • 13844305821 scopus 로고    scopus 로고
    • Clinical and molecular genetic evaluation of patients with primary dystonia
    • Shang H, Clerc N, Lang D, Kaelin-Lang A, Burgunder JM. Clinical and molecular genetic evaluation of patients with primary dystonia. Eur J Neurol 2005;12:131-138.
    • (2005) Eur J Neurol , vol.12 , pp. 131-138
    • Shang, H.1    Clerc, N.2    Lang, D.3    Kaelin-Lang, A.4    Burgunder, J.M.5
  • 13
    • 0029079994 scopus 로고
    • Dopa-responsive dystonia
    • Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol 1995;8:310-313.
    • (1995) Curr Opin Neurol , vol.8 , pp. 310-313
    • Nygaard, T.G.1
  • 14
    • 60549116697 scopus 로고    scopus 로고
    • Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5)
    • Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J 2009;32:1-11.
    • (2009) Chang Gung Med J , vol.32 , pp. 1-11
    • Segawa, M.1
  • 15
    • 0031947444 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: Some pieces of the puzzle are still missing
    • Nygaard TG, Wooten GF. Dopa-responsive dystonia: some pieces of the puzzle are still missing. Neurology 1998;50:853-855.
    • (1998) Neurology , vol.50 , pp. 853-855
    • Nygaard, T.G.1    Wooten, G.F.2
  • 16
    • 0030040698 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: Clinical and family study in Taiwanese
    • Chen RS, Huang CC, Lu CS. Dopa-responsive dystonia: clinical and family study in Taiwanese. Clin Neurol Neurosurg 1996;98:43-46.
    • (1996) Clin Neurol Neurosurg , vol.98 , pp. 43-46
    • Chen, R.S.1    Huang, C.C.2    Lu, C.S.3
  • 18
    • 0030756449 scopus 로고    scopus 로고
    • GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs
    • Jarman PR, Bandmann O, Marsden CD, Wood NW. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J Neurol Neurosurg Psychiatry 1997;63:304-308.
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 304-308
    • Jarman, P.R.1    Bandmann, O.2    Marsden, C.D.3    Wood, N.W.4
  • 19
    • 0031784841 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: A clinical and molecular genetic study
    • Bandmann O, Valente EM, Holmans P, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Annals of Neurology 1998;44:649-656.
    • (1998) Annals of Neurology , vol.44 , pp. 649-656
    • Bandmann, O.1    Valente, E.M.2    Holmans, P.3
  • 20
    • 0034642213 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa.German Dystonia Study Group
    • Steinberger D, Korinthenberg R, Topka H, Berghauser M, Wedde R, Muller U. Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa.German Dystonia Study Group. Neurology 2000;55:1735-1737.
    • (2000) Neurology , vol.55 , pp. 1735-1737
    • Steinberger, D.1    Korinthenberg, R.2    Topka, H.3    Berghauser, M.4    Wedde, R.5    Muller, U.6
  • 21
    • 0142103753 scopus 로고    scopus 로고
    • Update on dopa-responsive dystonia: Locus heterogeneity and biochemical features
    • Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004;94:127-138.
    • (2004) Adv Neurol , vol.94 , pp. 127-138
    • Furukawa, Y.1
  • 23
    • 18744432269 scopus 로고    scopus 로고
    • Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
    • Furukawa Y, Guttman 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.
    • (2000) Ann Neurol , vol.47 , pp. 517-520
    • Furukawa, Y.1    Guttman, M.2    Sparagana, S.P.3
  • 24
    • 0037058754 scopus 로고    scopus 로고
    • Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia
    • Klein C, Hedrich K, Kabakci K, et al. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002;59:1783-1786.
    • (2002) Neurology , vol.59 , pp. 1783-1786
    • Klein, C.1    Hedrich, K.2    Kabakci, K.3
  • 25
    • 20044379941 scopus 로고    scopus 로고
    • High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening
    • 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.
    • (2005) Neurology , vol.64 , pp. 908-911
    • Hagenah, J.1    Saunders-Pullman, R.2    Hedrich, K.3
  • 27
    • 42049103657 scopus 로고    scopus 로고
    • Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5
    • Wider C, Melquist S, Hauf M, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008;70 (16 Pt 2):1377-1383.
    • (2008) Neurology , vol.70 , Issue.16 PART 2 , pp. 1377-1383
    • Wider, C.1    Melquist, S.2    Hauf, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.