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Literature : Dopa-responsive dystonia (DRD)
Literature 2010
1. Cao, L., L. Zheng, W. G. Tang, Q. Xiao, T. Zhang, H. D. Tang, S. B. He, X. J. Wang, J. Q. Ding and S. D. Chen (2010). "Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia." Mov Disord 25(6): 747-52.
 
2. Liu, X., S. S. Zhang, D. F. Fang, M. Y. Ma, X. Y. Guo, Y. Yang and H. F. Shang "GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia." Mov Disord.Epub ahead of press
 
3. Wu-Chou, Y. H., T. H. Yeh, C. Y. Wang, J. J. Lin, C. C. Huang, H. C. Chang, S. C. Lai, R. S. Chen, Y. H. Weng, C. L. Huang and C. S. Lu "High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia." Am J Med Genet B Neuropsychiatr Genet.Epub ahead of press
 
Literature 2009
4. Bardien, S., R. Keyser, D. Lombard, M. du Plessis, H. Human and J. Carr (2009). "Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia." Eur J Neurol. Epub ahead of press
 
5. Clot, F., D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. Leguern, A. Durr, M. Vidailhet and A. Brice (2009). "Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia." Brain. Epub ahead of press
 
6. Kusmierska, K., E. E. Jansen, C. Jakobs, K. Szymanska, E. Malunowicz, D. Meilei, B. Thony, N. Blau, J. Tryfon, D. Rokicki, E. Pronicka and J. Sykut-Cegielska (2009). "Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up." J Inherit Metab Dis: DOI 10.1007/s10545-008-1009-4.
 
7. Segawa, M. (2009). "Autosomal Dominant GTP Cyclohydrolase I (AD GCH 1) Deficiency (Segawa Disease, Dystonia 5; DYT 5)." Chang Gung Med J 32(1): 1-11.
 
8. Shintaku, H. (2009). "Biopterin and child neurologic disease." No To Hattatsu 41(1): 5-10. (Japanese)
 
9. Talvik, I., M. Segawa, K. Veri, K. Gross-Paju and T. Talvik (2009). "Cases of dopa-responsive dystonia (Segawa disease) in Estonia." Brain Dev. Epub ahead of press
 
10. Trender-Gerhard, I., M. G. Sweeney, P. Schwingenschuh, P. Mir, M. J. Edwards, A. Gerhard, J. M. Polke, M. G. Hanna, M. B. Davis, N. W. Wood and K. P. Bhatia (2009). "Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients." J Neurol Neurosurg Psychiatry. Epub ahead of press
 
11. Wider, C., S. Lincoln, J. C. Dachsel, G. Kapatos, M. G. Heckman, N. N. Diehl, S. Papapetropoulos, D. Mash, A. Rajput, A. H. Rajput, D. W. Dickson, Z. K. Wszolek and M. J. Farrer (2009). "GCH1 expression in human cerebellum from healthy individuals is not gender dependant." Neurosci Lett. Epub ahead of press
 
Literature 2008
12. Cheyette, B. N., S. N. Cheyette, K. Cusmano-Ozog and G. M. Enns (2008). "Dopa-responsive dystonia presenting as delayed and awkward gait." Pediatr Neurol 38(4): 273-5.
 
13. Chiou, Y. W., W. L. Hwu and Y. M. Lee (2008). "Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein." Biochim Biophys Acta. Epub ahead of press
 
14. Horvath, G. A., S. G. Stockler-Ipsiroglu, R. Salvarinova-Zivkovic, Y. P. Lillquist, M. Connolly, K. Hyland, N. Blau, T. Rupar and P. J. Waters (2008). "Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms." Mol Genet Metab. 91: 127-131
 
15. Kim, Y. S., Y. B. Choi, J. H. Lee, S. H. Yang, J. H. Cho, C. H. Shin, S. D. Lee, M. K. Paik and K. M. Hong (2008). "Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele." Exp Mol Med 40(3): 271-5.
 
16. Sato, K., C. Sumi-Ichinose, R. Kaji, K. Ikemoto, T. Nomura, I. Nagatsu, H. Ichinose, M. Ito, W. Sako, S. Nagahiro, A. M. Graybiel and S. Goto (2008). "Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia." Proc Natl Acad Sci U S A. Epub ahead of press
 
17. Segawa, M. (2008). "Segawa disease." Brain Nerve 60(1): 5-11.[Article in Japanese]
 
18. Souza, C. P., E. R. Valadares, A. L. Trindade, V. L. Rocha, L. R. Oliveira and A. L. Godard (2008). "Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family." Genet Mol Res 7(3): 687-94.
 
19. Verbeek, M. M., M. A. Willemsen, R. A. Wevers, A. J. Lagerwerf, N. G. Abeling, N. Blau, B. Thony, E. Vargiami and D. I. Zafeiriou (2008). "Two Greek siblings with sepiapterin reductase deficiency." Mol Genet Metab. 94:403-409
 
20. von Mering, M., H. Gabriel, T. Opladen, G. F. Hoffmann and A. Storch (2008). "A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease." J Neurol Neurosurg Psychiatry 79(2): 229.
 
21. Wider, C., L. Skipper, A. Solida, L. Brown, M. Farrer, D. Dickson, Z. K. Wszolek and F. J. Vingerhoets (2008). "Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family." Parkinsonism Relat Disord. Epub ahead of press
 
22. Yum, M. S., T. S. Ko, H. W. Yoo and S. J. Chung (2008). "Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations." Pediatr Neurol 38(5): 367-9.
 
Literature 2007
23. Camargos, S. T., F. Cardoso, P. Momeni, J. Gurgel Gianetti, A. Lees, J. Hardy and A. Singleton (2007). "Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia." Mov Disord. Epub ahead of press
 
24. De Rosa, A., C. Carducci, I. Antonozzi, T. Giovanniello, E. Xhoxhi, C. Criscuolo, V. Menchise, S. Striano, A. Filla and G. De Michele (2007). "A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia." J Neurol. Epub ahead of press
 
25. Djarmati, A., M. Guzvic, A. Grunewald, A. E. Lang, P. P. Pramstaller, D. K. Simon, A. M. Kaindl, P. Vieregge, A. O. Nygren, C. Beetz, K. Hedrich and C. Klein (2007). "Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification." Mov Disord. Epub ahead of press
 
26. Farrugia, R., C. A. Scerri, S. A. Montalto, R. Parascandolo, B. G. Neville and A. E. Felice (2007). "Molecular genetics of tetrahydrobiopterin (BH(4)) deficiency in the Maltese population." Mol Genet Metab 90(3): 277-83.
 
27. Frcp, B. N. (2007). "Congenital DOPA-responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies?" Dev Med Child Neurol 49(2): 85.
 
28. Gordon, N. (2007). "Segawa's disease: dopa-responsive dystonia." Int J Clin Pract. Epub ahead of press
 
29. Hanajima, R., Y. Nomura, M. Segawa and Y. Ugawa (2007). "Intracortical inhibition of the motor cortex in Segawa disease (DYT5)." Neurology 68(13): 1039-44.
 
30. Hyland, K. (2007). "Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids." J Nutr 137(6): 1568S-72S.
 
31. Li, J., B. Tang, J. Guo, Y. Zhang, Z. Xie, X. Yan, L. Shen, H. Jiang, X. Zhang, K. Xia and Q. Pan (2007). "Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia." Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24(3): 302-4. (Article in Chinese)
 
32. Lopez-Laso, E., R. Camino, M. E. Mateos, J. L. Perez-Navero, J. J. Ochoa, J. I. Lao-Villadoniga, A. Ormazabal and R. Artuch (2007). "Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency." J Neurol Sci. Epub ahead of press
 
33. Nagata, E., A. Kosakai, K. Tanaka, M. Segawa, H. Fujioka, H. Shintaku and N. Suzuki (2007). "Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: A case report." Mov Disord. Epub ahead of press
 
34. Pearl, P. L., J. L. Taylor, S. Trzcinski and A. Sokohl (2007). "The pediatric neurotransmitter disorders." J Child Neurol 22(5): 606-16.
 
35. Steinberger, D., J. Trubenbach, B. Zirn, B. Leube, G. Wildhardt and U. Muller (2007). "Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia." Neurogenetics 8(1): 51-55.
 
36. Verbeek, M. M., G. C. H. Steenbergen-Spanjers, M. A. A. P. Willemsen, F. Hol, J. A. M. Smeitink, J. Seeger, P. Grattan-Smith, M. Ryan, G. F. Hoffmann, M. A. Donati, N. Blau and R. A. Wevers (2007). "Tyrosine hydroxylase deficiency caused by mutations in the cyclic AMP regulatory element of the promoter." Ann Neurol 62: 422-426.
 
37. Wider, C., S. Melquist, M. Hauf, A. Solida, S. A. Cobb, J. M. Kachergus, J. Gass, K. D. Coon, M. Baker, A. Cannon, D. A. Stephan, D. F. Schorderet, J. Ghika, P. R. Burkhard, G. Kapatos, M. Hutton, M. J. Farrer, Z. K. Wszolek and F. J. Vingerhoets (2007). "Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 redefining DYT14 as DYT5." Neurology. Epub ahead of press
 
Literature 2006
38. Abeling, N. G. G. M., M. Duran, H. D. Bakker, A. E. M. Stroomer, B. Thöny, N. Blau and B. T. Poll-The (2006). "Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia." Mol Genet Metab 89: 116-120.
 
39. Bianca, S. and M. Bianca (2006). "A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene - Segawa disease." J Neural Transm 113(2): 159-62.
 
40. Blau, N. and J. L. Dhondt (2006). BIODEF: International database of tetrahydrobiopterin deficiencies. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn, SPS Verlagsgesellschaft: 701-706.
 
41. Echenne, B., A. Roubertie, B. Assmann, T. Lutz, J. M. Penzien, B. Thony, N. Blau and G. F. Hoffmann (2006). "Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy." Pediatr Neurol 35(5): 308-13.
 
42. Friedman, J., K. Hylan, N. Blau and M. Maccollin (2006). "Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency." Neurology 67: 2032-2035.
 
43. Furukawa, Y. (2006). "Dopa-responsive dystonia: clinical, genetic, and biochemical studies." Rinsho Shinkeigaku 46(1): 19-34.[Article in Japanese]
 
44. Hagenah, J. M., K. Hedrich, B. Becker, P. P. Pramstaller, G. Seidel and C. Klein (2006). "Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography." Neurology 66(12): 1951-2.
 
45. Heales SJR, Foxton RH, Canevari LC, et al. Correction of tetrahydrobiopterin deficiency - Implications for dopa responsive dystonia and other inherited disorders of tetrahydrobiopterin metabolism 18th World Congress of Neurology, NOV 05-11, 2005 JOURNAL OF THE NEUROLOGICAL SCIENCES 238: S322-S322, Suppl. 1 NOV 15 2005 [Abstract]
 
46. Hertz, J. M., K. Ostergaard, I. Juncker, S. Pedersen, A. Romstad, L. B. Moller, F. Guttler and E. Dupont (2006). "Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease." Eur J Neurol 13(4): 385-90.
 
47. Hjermind, L. E., L. G. Johannsen, N. Blau, R. A. Wevers, C. B. Lucking, J. M. Hertz, L. Friberg, L. Regeur, J. E. Nielsen and S. A. Sorensen (2005). "Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?" Mov Disord. 21:679-682
 
48. Huang, Y. Z., I. Trender-Gerhard, M. J. Edwards, P. Mir, J. C. Rothwell and K. P. Bhatia (2006). "Motor system inhibition in dopa-responsive dystonia and its modulation by treatment." Neurology 66(7): 1088-90.
 
49. Lopez-Laso, E., A. Ormazabal, R. Camino, F. J. Gascon, J. J. Ochoa, M. E. Mateos, M. J. Munoz, J. L. Perez-Navero, J. I. Lao, M. A. Vilaseca and R. Artuch (2006). "Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency." Clin Biochem 39(9): 893-7.
 
50. Ohta, E., M. Funayama, H. Ichinose, I. Toyoshima, F. Urano, M. Matsuo, N. Tomoko, K. Yukihiko, S. Yoshino, H. Yokoyama, H. Shimazu, K. Maeda, K. Hasegawa and F. Obata (2006). "Novel Mutations in the Guanosine Triphosphate Cyclohydrolase 1 Gene Associated With DYT5 Dystonia." Arch Neurol 63(11): 1605-1610.
 
51. Pascual-Pascual, S. I. (2006). "The study and treatment of dystonias in childhood." Rev Neurol 43 Suppl 1: S161-8.[Article in Spanish]
 
52. Sharma, M., J. C. Mueller, A. Zimprich, P. Lichtner, A. Hofer, P. Leitner, S. Maass, D. Berg, A. Durr, V. Bonifati, G. De Michele, B. Oostra, A. Brice, N. W. Wood, B. Muller-Myhsok and T. Gasser (2006). "The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations." J Med Genet 43(7): 557-62.
 
53. Van Hove, J. L. K., J. Steyaert, G. Matthijs, E. Legius, P. Theys, R. A. Wevers, A. Romstadt, L. Birk Moller, K. Hedrich, D. Goriounov, N. Blau, C. Klein and P. Casaer (2006). "Expanded phenotype in Segawa syndrome due to GTP cyclohydrolase deficiency." J Neurol Neurosurg Psychiatr 77: 18-23.
 
54. Wang, X. Z. and N. Zhong (2006). "Clinical and genetic features of DYT1 and DYT5." Beijing Da Xue Xue Bao 38(1): 107-9.[Chinese]
 
55. Xie, H., Z. Y. Wu, N. Wang, Z. W. Li, M. T. Lin and S. X. Murong (2006). "[Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene.]." Zhonghua Er Ke Za Zhi 44(7): 492-5. [Article in Chinese]
 
Literature 2005
56. Asanuma, K., Y. Ma, C. Huang, M. Carbon-Correll, C. Edwards, D. Raymond, S. B. Bressman, J. R. Moeller and D. Eidelberg (2005). "The metabolic pathology of dopa-responsive dystonia." Ann Neurol 57(4): 596-600.
 
57. Furuya, H., H. Murai, K. Takasugi, Y. Ohyagi, F. Urano, T. Kishi, H. Ichinose and J. Kira (2006). "A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene." Clin Neurol Neurosurg 108(8): 784-6.
 
58. Hagenah, J., R. Saunders-Pullman, K. Hedrich, K. Kabakci, K. Habermann, K. Wiegers, K. Mohrmann, T. Lohnau, D. Raymond, P. Vieregge, T. Nygaard, L. J. Ozelius, S. B. Bressman and C. Klein (2005). "High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening." Neurology 64(5): 908-11.
 
59. Hui xie, H., Z. Y. Wu, N. Wang and S. X. Murong (2005). "Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia." Hum Genet 116(3): 235.
 
60. Kaindl, A. M., D. Steinberger, G. Heubner, U. Müller, N. Blau, K. Neubert, B. Kunath and M. von der Hagen (2005). "Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1." J Padiatr Neurol 3: 83-87.
 
61. Neville, B. G., R. Parascandalo, R. Farrugia and A. Felice (2005). "Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder." Brain.128(Pt 10):2291-6
 
62. Paviour, D. C., T. Revesz, J. L. Holton, A. Evans, J. E. Olsson and A. J. Lees (2005). "Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies." Mov Disord 20(10): 1345-9.
 
Literature 2004
63. Furukawa, Y. (2004). "Update on dopa-responsive dystonia: locus heterogeneity and biochemical features." Adv Neurol 94: 127-38.
 
64. Grotzsch, H., H. Schnorf, M. A. Morris, I. Moix, J. Horvath, O. Prilipko and P. R. Burkhard (2004). "Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins." Neurology 62(4): 637-9.
 
65. Hwu, W. L., M. Y. Lu, K. Y. Hwa, S. W. Fan and Y. M. Lee (2004). "Molecular chaperons affect GTP cyclohydrolase I mutations in Dopa-responsive dystonia." Ann Neurol 55: 875-878.
 
66. Kang, J. H., S. Y. Kang, H. K. Kang, Y. S. Koh, J. H. Im and M. C. Lee (2004). "A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia." Brain Dev 26(5): 287-91.
 
67. Saunders-Pullman, R., N. Blau, K. Hylan, J. Zschocke, T. Nygaard, D. Raymond, V. Shanker, K. Mohrmann, L. Arnold, S. Tabbal, D. deLeon, B. Ford, M. Brin, S. Chouinard, L. Ozelius, C. Klein and S. B. Bressman (2004). "Phenylalanine loading as a diagnostic test for Dopa-responsive dystonia: Interpreting the utility of the test." Mol Genet Metab 83: 207-212.
 
68. Steinberger, D., N. Blau, D. Goriuonov, J. Bitsch, M. Zuker, S. Hummel and U. Muller (2004). "Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia." Neurogenetics 5(3): 187-90.
 
Literature 2003
69. Bandmann, O., M. Goertz, J. Zschocke, G. Deuschl, W. Jost, H. Hefter, U. Muller, P. Zofel, G. Hoffmann and W. Oertel (2003). "The phenylalanine loading test in the differential diagnosis of dystonia." Neurology 60(4): 700-702.
 
70. De La Fuente-Fernandez, R., S. Furtado, M. Guttman, Y. Furukawa, C. S. Lee, D. B. Calne, T. J. Ruth and A. J. Stoessl (2003). "VMAT2 binding is elevated in dopa-responsive dystonia: Visualizing empty vesicles by PET." Synapse 49(1): 20-8.
 
71. Hyland, K., R. S. Gunasekara, T. L. Munk-Martin, L. A. Arnold and T. Engle (2003). "The hph-1 mouse: A model for dominantly inherited GTP-cyclohydrolase deficiency." Ann Neurol 54 Suppl 6: S46-8.
 
72. Mink, J. W. (2003). "Dopa-responsive Dystonia in Children." Curr Treat Options Neurol 5(4): 279-282.
 
73. Romstad, A., E. Dupont, B. Krag-Olsen, K. Ostergaard, P. Guldberg and F. Guttler (2003). "Dopa-responsive dystonia and tourette syndrome in a large danish family." Arch Neurol 60(4): 618-22.
 
74. Segawa, M., Y. Nomura and N. Nishiyama (2003). "Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)." Ann Neurol 54 Suppl 6: S32-45.
 
Literature 2002
75. Grimes, D.A., et al., Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry, 2002. 72(6): p. 801-4.
 
76. Ihara M. Kohara N. Urano F. Ichinose H. Takao S. Nishida T. Saiki H. Kawamoto Y. Ikeda A. Takagi S. Shibasaki H. Neuroleptic malignant syndrome with prolonged catatonia in a dopa-responsive dystonia patient. Neurology. 59(7):1102-1104, 2002
 
77. Klein C. Hedrich K. Kabakci K. Mohrmann K. Wiegers K. Landt O. Hagenah J. Schwinger E. Pramstaller PP. Ozelius LJ. Gucuyener K. Aysun S. Demir E. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology. 59(11):1783-1786, 2002
 
78. Leuzzi V. Carducci C. Cardona F. Artiola C. Antonozzi I. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology. 59(8):1241-1243, 2002
 
79. Müller U, Steinberger D, Topka H. Mutations of GCH1 in dopa-responsive dystonia. J Neural Transm 2002;109(S1):321-328.
 
Literature 2001
80. Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N. Diagnosis of Dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 2001;47:477-485.
 
81. Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-277
 
82. Furukawa Y, Graf WD, Wong H, Shimadzu M, Kish SJ. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56(2):260-3.
 
83. Hoenicka J, Vidal L, Godoy M, Ochoa JJ, Garcia De Yebenes J. New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism. Mov Disord 2001;16(2):364-6.
 
84. Kong CK, Ko CH, Tong SF, Lam CW. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology 2001;57(6):1121-4.
 
Literature 2000
85. Furukawa Y, Guttman M, Sparagana SP, Trugman JM, Hyland K, Wyatt P, Lang AE, Rouleau GA, Shimadzu M, Kish SJ. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000;47(4):517-20.
 
86. Furukawa Y, Kish SJ, Lang AE. Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene. Neurology 2000;54(11):2187.
 
87. Hibiya M, Ichinose H, Ozaki N, Fujita K, Nishimoto T, Yoshikawa T, Asano Y, Nagatsu T. Normal values and age-dependent changes in GTP cyclohydrolase I activity in stimulated mononuclear blood cells measured by high- performance liquid chromatography. J Chromatogr B Biomed Sci Appl 2000;740(1):35-42.
 
88. Hwu WL, Chiou YW, Lai SY, Lee YM. Dopa-responsive dystonia is induced by a dominant-negative mechanism. Ann Neurol 2000;48(4):609-13.
 
89. Ichinose H, Inagaki H, Suzuki T, Ohye T, Nagatsu T. Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease. Brain Dev 2000;22 Suppl 1:S107-10.
 
90. Markova ED, Slominskii PA, Illarioshkin SN, Miklina NI, Shadrina MI, Popova SN, Limborskaia SA, Ivanova-Smolenskaia IA. Molecular-genetic analysis of torsion dystonia in Russia. Genetika 2000;36(7):952-8.
 
91. Nishiyama N, Yukishita S, Hagiwara H, Kakimoto S, Nomura Y, Segawa M. Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. Brain Dev 2000;22 Suppl 1:S102-6.
 
92. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 2000;22 Suppl 1:S65-80.
 
93. 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(11):1735-7.
 
94. Tassin J, Durr A, Bonnet AM, Gil R, Vidailhet M, Lucking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholome B, Agid Y, Brice A. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000;123(Pt 6):1112-21.
 
95. Ueno S, Hirano M. Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia. Brain Dev 2000;22 Suppl 1:S111-4.
 
Literature 1999
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229. Giroud M, Septien L, Couillault G, Gras P, Nivelon JL, Dumas R. [Dopa-sensitive muscular dystonia. Segawa's syndrome. A case report]. Ann Pediatr (Paris) 1992;39(4):248-50.
 
230. Kaiser R, Ziegler G. Hereditary progressive dystonia with diurnal fluctuation (Segawa's syndrome)--an unusual case. Neuropediatrics 1992;23(5):268-71.
 
231. Lamberti P, de Mari M, Iliceto G, Federico F. Dopa responsive dystonia and juvenile Parkinson's disease: two subtypes of the same disorder? Acta Neurol (Napoli) 1992;14(4-6):451-4.
 
232. Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 1992;32(5):603-8.
 
233. Olsson JE, Brunk U, Lindvall B, Eeg-Olofsson O. Dopa-responsive dystonia with depigmentation of the substantia nigra and formation of Lewy bodies. J Neurol Sci 1992;112(1-2):90-5.
 
234. Satishchandra P, Mullati N, Suresh TG. Progressive dystonia with marked diurnal fluctuation. J Assoc Physicians India 1992;40(1):55-6.
 
235. Togari A, Ichinose H, Matsumoto S, Fujita K, Nagatsu T. Multiple mRNA forms of human GTP cyclohydrolase I. Biochem Biophys Res Commun 1992;187:359-365.
 
Literature 1991
236. Curtius HC, Blau N, Kuster T. Pterins. In: Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 1991: 377-396.
 
237. Fink JK, Ravin PD, Filling-Katz M, Argoff CE, Hallett M. Clinical and genetic analysis of progressive dystonia with diurnal variation. Arch Neurol 1991;48(9):908-11.
 
238. Kwiatkowski DJ, Nygaard TG, Schuback DE, Perman S, Trugman JM, Bressman SB, Burke RE, Brin MF, Ozelius L, Breakefield XO, et al. Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet 1991;48(1):121-8.
 
239. Micheli F, Pardal MF, Gatto E, Paradiso G. Dopa-responsive dystonia masquerading as idiopathic kyphoscoliosis. Clin Neuropharmacol 1991;14(4):367-71.
 
240. Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991;41(2 ( Pt 1)):174-81.
 
241. Park YS, Heizmann CW, Wermuth B, Levine RA, Steinerstauch P, Guzman J, Blau N. Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis. Biochem Biophys Res Commun 1991;175(3):738-44.
 
242. Quinn NP. Dopa-responsive dystonia. Dev Med Child Neurol 1991;33(8):750.
 
243. Sawle GV, Leenders KL, Brooks DJ, Harwood G, Lees AJ, Frackowiak RS, Marsden CD. Dopa-responsive dystonia: [18F]dopa positron emission tomography. Ann Neurol 1991;30(1):24-30.
 
Literature 1990
244. Brown P, Britton TC. Cortico-motor neurone conduction in dopa responsive dystonia. Mov Disord 1990;5(4):338.
 
245. Citron BA, Milstien S, Gutierrez JC, Levine RA, Yanak BL, Kaufman S. Isolation and expression of rat liver sepiapterin reductase cDNA. Proc Natl Acad Sci USA 1990;87:6436-6440.
 
246. Iwami O, Kawamura J, Hashimoto S, Suenaga T, Nakamura M. [Hereditary progressive dystonia with marked diurnal fluctuation--a report of two siblings, one of them showing age-dependent changes of symptoms]. Rinsho Shinkeigaku 1990;30(9):961-5.
 
247. Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlstrom J, Drugge U. Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 1990;5(4):270-9.
 
248. Lang AE, Garnett ES. Dopa-responsive parkinsonism with normal 6[18F]-fluorodopa positron emission tomography scans. Ann Neurol 1990;28(4):592-3.
 
249. Nair KR. Paroxysmal hypnogenic dystonia responsive to phenytoin. Mov Disord 1990;5(2):180-1.
 
250. 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(1):66-9.
 
251. Oyama R, Katoh S, Sueoka T, Suzuki M, Ichinose H, Nagatsu T, Titani K. The complete amino acid sequence of the mature form of rat sepiapterin reductase. Biochem Biophys Res Commun 1990;173:627-631.
 
252. Puel O, Fontan D, Hehunstre JP, Guillard JM. [Fluctuating muscular dystonia. Segawa's syndrome. Value of the treatment with L-dopa]. Arch Fr Pediatr 1990;47(7):511-2.
 
253. Watanabe K, Ebi T, Morishima T, Tsuchiya I, Sahashi I, Mitsuma T. [Four cases in two families of hereditary progressive dystonia with circadian rhythm]. Nippon Naika Gakkai Zasshi 1990;79(1):102-3.
 
Literature 1989
254. Boyd K, Patterson V. Dopa responsive dystonia: a treatable condition misdiagnosed as cerebral palsy. Bmj 1989;298(6679):1019-20.
 
255. de Jong AP, Haan EA, Manson JI, Wise GA, Ouvrier RA, Wadman SK. Kinetic study of catecholamine metabolism in hereditary progressive dystonia. Neuropediatrics 1989;20(1):3-11.
 
256. Dopa responsive dystonia. Bmj 1989;298(6682):1250.
 
257. Fletcher NA, Holt IJ, Harding AE, Nygaard TG, Mallet J, Marsden CD. Tyrosine hydroxylase and levodopa responsive dystonia. J Neurol Neurosurg Psychiatry 1989;52(1):112-4.
 
258. Gadoth N, Costeff H, Harel S, Lavie P. Motor abnormalities during sleep in patients with childhood hereditary progressive dystonia, and their unaffected family members. Sleep 1989;12(3):233-8.
 
259. Hwu WL, Wang PJ, Shen YZ. Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989;30(1):46-51.
 
260. Muller K, Homberg V, Lenard HG. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989;20(4):185-91.
 
261. Oki J, Sasaki N, Kusunoki Y, Cho K. [Response to haloperidol and analysis of growth curve in hereditary progressive dystonia with marked diurnal fluctuation]. No To Hattatsu 1989;21(6):569-73.
 
262. Ujike H, Nakashima M, Kuroda S, Otsuki S. [Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)]. Rinsho Shinkeigaku 1989;29(7):890-4.
 
Literature 1988
263. Fink JK, Barton N, Cohen W, Lovenberg W, Burns RS, Hallett M. Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology 1988;38:707.
 
264. Ishida A, Takada G, Kobayashi Y, Higashi O, Toyoshima I, Takai K. [Serotonergic disturbance in hereditary progressive dystonia--clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan]. No To Hattatsu 1988;20(3):195-9.
 
265. Ishida A, Takada G, Kobayashi Y, Toyoshima I, Takai K. Effect of tetrahydrobiopterin and 5-hydroxytryptophan on hereditary progressive dystonia with marked diurnal fluctuation: a suggestion of the serotonergic system involvement. Tohoku J Exp Med 1988;154(3):233-9.
 
266. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988;50:377-84.
 
267. Segawa M, Nomura Y, Tanaka S, Hakamada S, Nagata E, Soda M, Kase M. Hereditary progressive dystonia with marked diurnal fluctuation-- consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings. Adv Neurol 1988;50:367-76.
 
Literature 1987
268. Costeff H, Gadoth N, Mendelson L, Harel S, Lavie P. Fluctuating dystonia responsive to levodopa. Arch Dis Child 1987;62(8):801-4.
 
269. Micheli F, Fernandez Pardal M, de Arbelaiz R, Lehkuniec E, Giannaula R. Paroxysmal dystonia responsive to anticholinergic drugs. Clin Neuropharmacol 1987;10(4):365-9.
 
270. Nomura K, Yamamoto N, Takahashi I, Furune S, Aso K, Negoro T, Watanabe K. [Bromocriptine and L-dopa therapy: comparison in a case of hereditary progressive dystonia with marked diurnal fluctuations]. No To Hattatsu 1987;19(3):244-8.
 
271. Segawa M, Nomura Y, Kase M. Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease. Adv Neurol 1987;45:227-34.
 
272. Stoudemire A, Ninan PT, Wooten V. Hypnogenic paroxysmal dystonia with panic attacks responsive to drug therapy. Psychosomatics 1987;28(5):280-1.
 
Literature 1986
273. Deonna T. DOPA-sensitive progressive dystonia of childhood with fluctuations of symptoms--Segawa's syndrome and possible variants. Results of a collaborative study of the European Federation of Child Neurology Societies (EFCNS). Neuropediatrics 1986;17(2):81-5.
 
274. LeWitt PA, Miller LP, Levine RA, Lovenberg W, Newman RP, Papavasiliou A, Rayes A, Eldridge R, Burns RS. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. Neurology 1986;36(6):760-4.
 
275. Shimoyamada Y, Yoshikawa A, Kashii H, Kihira S, Koike M. [Hereditary progressive dystonia--an observation of the catecholamine metabolism during L-DOPA therapy in a 9-year-old girl]. No To Hattatsu 1986;18(6):505-9.
 
276. Torelli D, Lamontanara G, Bracciolini M, Ciaravolo GA. Hereditary progressive dystonia with marked diurnal fluctuation in a family with pigmentary retinopathy. Acta Neurol (Napoli) 1986;8(6):626-32.
 
Literature 1985
277. Blau, N., P. Joller, M. Atares, J. Cardesa-Garcia, and A. Niederwieser. "Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency." Clin Chim Acta 148, 1 (1985): 47-52.
 
278. 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(6):819-21.
 
Literature 1983
279. LeWitt PA, Newman RP, Miller LP, Lovenberg W, Eldridge R. Treatment of dystonia with tetrahydrobiopterin. N Engl J Med 1983;308(3):157-8.
 
280. Rondot P, Ziegler M. Dystonia--L-dopa responsive or juvenile parkinsonism? J Neural Transm Suppl 1983;19:273-81.
 
Literature 1982
281. Sueoka T, Katoh S. Purification and characterization of sepiapterin reductase from rat erythrocytes. Biochim. Biophys. Acta. 1982;717:265-271.
 
Literature 1976
282. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-33.
 
Reviews 2006
283. Thöny, B. and N. Blau (2006). "Mutations in the BH4-metabolizing genes GTP cyclohydroalse I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase genes." Human Mutat 27: 870-878.
 
Reviews 2001
284. Blau N, Bonafé L, Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of Dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001; 74, 172-185
 
285. Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001: 1725-1776.
 
 


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