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Original Article

A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia

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Pages 694-700 | Received 16 May 2016, Accepted 11 Sep 2016, Published online: 05 Oct 2016

References

  • Schiller A, Wevers RA, Steenbergen GC, et al. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology 2004;63:1524–6.
  • 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;74:513–21.
  • Opladen T, Hoffmann G, Horster F, et al. Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord 2011;26:157–61.
  • Steinberger D, Korinthenberg R, Topka H, et al. Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. Neurology 2000;55:1735–7.
  • 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. Chinese J Pediatr 2006;44:492–5.
  • Liu X, Zhang SS, Fang DF, et al. GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. Mov Disord 2010;25:447–51.
  • Cao L, Zheng L, Tang WG, et al. Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia. Mov Disord 2010;25:755–60.
  • Lin Y, Wang DN, Chen WJ, et al. Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene. J Child Neurol 2014;30:796–9.
  • Cai C, Shi W, Zeng Z, et al. GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. PloS One 2013;8:e65215.
  • Yu L, Zhou H, Hu F, et al. Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese dopa-responsive dystonia patients. Eur J Hum Genet 2013;21:731–5.
  • Hu FY, Xu YM, Yu LH, et al. A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes dopa-responsive dystonia in Chinese Han population. Eur J Neurol 2011;18:362–4.
  • Shi WT, Cai CY, Li MS, et al. Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene. Genet Mol Res 2015;14:11185–90.
  • Sun ZF, Zhang YH, Guo JF, et al. Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. PloS One 2014;9:e106388.
  • Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988;50:377–84.
  • Zhang BR, Hu ZX, Yin XZ, et al. Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China. Neurosci Lett 2010;477:19–22.
  • Cai M, Yin X, Ou-yang Z, et al. [Mutation analysis of D J-1 in patients with early-onset Parkinson's disease and relationship between the g.168_185del polymorphism and Parkinson's disease]. Chinese J Neurol 2013;46:655–8.
  • Weber Y, Steinberger D, Deuschl G, et al. Two previously unrecognized splicing mutations of GCH1 in dopa-responsive dystonia: exon skipping and one base insertion. Neurogenetics 1997;1:125–7.
  • Trender-Gerhard I, Sweeney MG, Schwingenschuh P, et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry 2009;80:839–45.
  • Hagenah J, Saunders-Pullman R, Hedrich K, et al. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005;64:908–11.
  • Lewthwaite AJ, Lambert TD, Rolfe EB, et al. Novel GCH1 variant in dopa-responsive dystonia and Parkinson's disease. Parkinsonism Relat Disord 2015;21:394–7.
  • Eggers C, Volk AE, Kahraman D, et al. Are dopa-responsive dystonia and Parkinson's disease related disorders? A case report. Parkinsonism Relat Disord 2012;18:666–8.
  • Mencacci NE, Isaias IU, Reich MM, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain 2014;137:2480–92.
  • Lee WW, Jeon BS. Clinical spectrum of dopa-responsive dystonia and related disorders. Current Neurol Neurosci Rep 2014;14:461.
  • Satoh J, Kuroda Y. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease. NeuroReport 1999;10:2735–9.
  • Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010;133:1810–22.
  • Haugarvoll K, Bindoff LA. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. J Parkinsons Dis 2011;1:119–22.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24.
  • Tekin I, Roskoski R Jr., Carkaci-Salli N, et al. Complex molecular regulation of tyrosine hydroxylase. J Neural Trans 2014;121:1451–81.
  • Dunkley PR, Bobrovskaya L, Graham ME, et al. Tyrosine hydroxylase phosphorylation: regulation and consequences. J Neurochem 2004;91:1025–43.
  • Nagatsu T, Ichinose H. Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals. Comp Biochem Physiol 1991;98:203–10.
  • Goodwill KE, Sabatier C, Marks C, et al. Crystal structure of tyrosine hydroxylase at 2.3 A and its implications for inherited neurodegenerative diseases. Nat Struct Biol 1997;4:578–85.
  • Brautigam C, Steenbergen-Spanjers GC, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999;45:2073–8.
  • Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol 1995;8:310–13.
  • Lee JH, Ki CS, Kim DS, et al. Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. J Korean Med Sci 2011;26:1244–6.

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