代丽芳, 丁昌红, 方方. 多巴反应性肌张力障碍诊治进展[J]. 中国循证儿科杂志, 2019, 14(5): 395-400.
| [1]Randby H, Salvador CL, Oppebøen M, et al. Dopa-responsive dystonia. Tidsskr Nor Laegeforen, 2018, 138(19) [2]Wijemanne S, Jankovic J. Dopa-responsive dystonia--clinical and genetic heterogeneity. Nat Rev Neurol, 2015, 11(7): 414-424 [3]Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem, 1995, 270(17): 10062-10071 [4]Nygaard TG, Wilhelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet, 1993, 5(4): 386-391 [5]Bonafé L, Thény B, Leimbacher W, et al. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem, 2001, 47(3): 477-485 [6]Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, et al. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. Mol Genet Metab, 2008, 94(1): 127-131 [7]Blau N, Bonafé L, Thény B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab, 2001, 74(1-2): 172-185 [8]Opladen T, Hoffmann GF, Kühn AA, et al. Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Mol Genet Metab, 2013, 108(3): 195-197 [9]Furukawa Y, Shimadzu M, Rajput AH, et al. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. Ann Neurol, 1996, 39(5): 609-617 [10]Kurian MA, Gissen P, Smith M, et al. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol, 2011, 10(8): 721-733 [11]LeWitt PA, Miller LP, Levine RA, et al. Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials. Neurology, 1986, 36(6): 760-764 [12]Rilstone JJ, Alkhater RA, Minassian BA. Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med, 2013, 368(6): 543-550 [13]Lüdecke B, Dworniczak B, Bartholomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome. Hum Genet, 1995, 95(1): 123-125 [14]Lüdecke B, Knappskog PM, Clayton PT, et al. L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet, 1996, 5(7): 1023-1028 [15]Neville BG, Parascandalo R, Farrugia R, et al. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain, 2005, 128(Pt 10): 2291-2296 [16]Abeling NG, Duran M, Bakker HD, et al. Sepiapterin reductase deficiency an autosomal recessive DOPAresponsive dystonia. Mol Genet Metab, 2006, 89(1-2): 116-120 [17]Bonafé L, Thény B, Penzien JM, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamineneurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet, 2001, 69(2): 269-277 [18]Koht J, Rengmark A, Opladen T, et al. Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurol Scand Suppl, 2014, (198): 7-12 [19]Friedman J, Roze E, Abdenur JE, et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol, 2012, 71(4): 520-530 [20]Clot F, Grabli D, Cazeneuve C, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 2009, 132(Pt 7): 1753-1763 [21]Andreou D, Söderman E, Axelsson T, et al. Polymorphisms in genes implicated in dopamine, serotonin and noradrenalin metabolism suggest association with cerebrospinal fluid monoamine metabolite concentrations in psychosis. Behav Brain Funct, 2014, 10: 26 [22]中华医学会儿科学分会内分泌遗传代谢学组. 高苯丙氨酸血症的诊治共识. 中华儿科杂志, 2014, 52 (6): 420-425 [23]Hanihara T, Inoue K, Kawanishi C, et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord, 1997, 12(3): 408-411 [24]Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol, 1976, 14: 215-233 [25]Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol, 1988, 50: 377-384 [26]陈岩, 包新华. 多巴反应性肌张力不全临床与遗传学进展. 中国实用儿科杂志, 2018, 33(7): 552-555 [27]Tadic V, Kasten M, Brüggemann N, et al. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol, 2012, 69(12): 1558-1562 [28]Zhang W, Zhou Z, Li X, et al. Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. Neurosci Lett, 2017, 644: 48-54 [29]Yum MS, Ko TS, Yoo HW, et al. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations. Pediatr Neurol, 2008, 38(5): 367-369 [30]Garavaglia B, Invernizzi F, Carbone ML, et al. GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J. Inherit. J Inherit Metab Dis, 2004, 27(4): 455-463 [31]Hahn H, Trant MR, Brownstein MJ, et al. Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphatecyclohydrolase gene. Arch Neurol, 2001, 58(5): 749-755 [32]Tassin J, Dürr A, Bonnet AM, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain, 2000, 123 ( Pt 6): 1112-1121 [33]Lee JY, Yang HJ, Kim JM, et al. Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with doparesponsive dystonia. Parkinsonism Relat Disord, 2013, 19(12): 1156-1159 [34]Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol, 1995, 8(4): 310-313 [35]Goodchild RE, Grundmann K, Pisani A. New genetic insights highlight ‘old’ ideas on motor dysfunction in dystonia. Trends Neurosci, 2013, 36(12): 717-725 [36]Dale RC, Melchers A, Fung VS, et al. Familial paroxysmal exerciseinduced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol, 2010, 52(6): 583-586 [37]Tsao CY. Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children. J Child Neurol, 2012, 27(3): 389-391 [38]Furukawa Y. GTP cyclohydrolase 1-deficient dopa-responsive dystonia. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2019. 2002 Feb 21 [updated 2019 Jan 24] [39]Van Hove JL, Steyaert J, Matthijs G, et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry, 2006, 77(1): 18-23 [40]Segawa M, Nomura Y, Hayashi M. Doparesponsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: evidence observed in studies on Segawa disease. Neuropediatrics, 2013, 44(2): 61-66 [41]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(8): 839-845 [42]Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol, 2003, 54 Suppl 6: S32-45 [43]Kong CK, Ko CH, Tong SF, et al. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology, 2001, 57(6): 1121-1124 [44]Nygaard TG, Marsden CD, Fahn S. Doparesponsive dystonia: long-term treatment response and prognosis. Neurology, 1991, 41(2 ( Pt 1)): 174-181 [45]Bandmann O, Marsden CD, Wood NW. Atypical presentations of dopa-responsive dystonia. Adv Neurol, 1998, 78: 283-290 [46]López-Laso E, Camino R, Mateos ME, et al. Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. J Neurol Sci, 2007, 256(1-2): 90-93 [47]Brüggemann N, Stiller S, Tadic V, et al. Non-motor phenotype of dopa-responsive dystonia and quality of life assessment. Parkinsonism Relat Disord, 2014, 20(4): 428-431 [48]López-Laso E, Sánchez-Raya A, Moriana JA, et al. Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. J Neurol, 2011, 258(12): 2155-2162 [49]Carecchio M, Schneider SA. GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia. Mov Disord, 2015, 30(7): 910 [50]Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, et al. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. Mol. Mol Genet Metab, 2008, 94(1): 127-131 [51]Opladen T, Hoffmann G, Hörster 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(1): 157-161 [52]Nardocci N, Zorzi G, Blau N, et al. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. Neurology, 2003, 28, 60(2): 335-337 [53]Hwu WL, Wang PJ, Hsiao KJ, et al. Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. Hum Genet, 1999, 105(3): 226-230 [54]Furukawa Y, Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol, 1998, 44(1): 10-16 [55]Lee WW, Jeon BS. Clinical spectrum of dopa-responsive dystonia and related disorders. Curr Neurol Neurosci Rep, 2014, 14(7): 461 [56]Opladen T, Hoffmann GF, Kühn AA, et al. Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Mol Genet Metab, 2013, 108(3): 195-197 [57]Hyland K, Fryburg JS, Wilson WG, et al. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology, 1997, 48(5): 1290-1297 [58]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(7): 1209-1212 [59]Furukawa Y, Kish S. Tyrosine hydroxylase deficiency. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2019. 2008 Feb 8 [updated 2017 May 11] [60]Rondot P, Ziegler M. Dystonia--L-dopa responsive or juvenile parkinsonism? J Neural Transm Suppl, 1983, 19: 273-281 [61]Furukawa Y, Graf WD, Wong H, et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosinehydroxylase (TH) gene mutations. Neurology, 2001, 56(2): 260-263 [62]Swaans RJ, Rondot P, Renier WO, et al. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet, 2000, 64(Pt 1): 25-31 [63]Hoffmann GF, Assmann B, Bräutigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol, 2003, 54 Suppl 6: S56-65 [64]Ribasés M, Serrano M, Fernández-Alvarez E, et al. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Mol Genet Metab, 2007, 92(3): 274-277 [65]Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain, 2010, 133(Pt 6): 1810-1822 [66]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(6): 513-521 [67]Giovanniello T, Leuzzi V, Carducci C, et al. Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. Neuropediatrics, 2007, 38(4): 213-215 [68]Diepold K, Schütz B, Rostasy K, et al. Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. Mov Disord, 2005, 20(6): 764-767 [69]de Rijk-Van Andel JF, Gabreëls FJ, Geurtz B, et al. l-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology, 2000, 55(12): 1926-1928 [70]DE Lonlay P, Nassogne MC, van Gennip AH, et al. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. J Inherit Metab Dis, 2000, 23(8): 819-825 [71]Zafeiriou DI, Willemsen MA, Verbeek MM, et al. Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab, 2009, 97(1): 18-20 [72]Doummar D, Clot F, Vidailhet M, et al. Infantilehypokinetichypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene. Mov Disord, 2009, 24(6): 943-945 [73]Echenne B, Roubertie A, Assmann B, et al. Sepiapterin reductase deficiency: clinical presentation and evaluation of longterm therapy. Pediatr Neurol, 2006, 35(5): 308-313 [74]Dill P, Wagner M, Somerville A, et al. Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology, 2012, 78(5): e29-32 [75]Arrabal L, Teresa L, Sánchez-Alcudia R, et al. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics, 2011, 12(3): 183-191 [76]Echenne B, Roubertie A, Assmann B, et al. Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. Pediatr Neurol, 2006, 35(5): 308-313 [77]Brüggemann N, Spiegler J, Hellenbroich Y, et al. Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency. Arch Neurol, 2012, 69(8): 1071-1075 [78]Harwood G, Hierons R, Fletcher NA, et al. Lessons from a remarkable family with dopa-responsive dystonia. J Neurol Neurosurg Psychiatry, 1994, 57(4): 460-463 [79]Asmus F, Gasser T. Dystonia-plus syndromes. Eur J Neurol, 2010, 17 Suppl 1: 37-45 [80]Thöny B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat, 2006, 27(9): 870-878 [81]Pons R, Syrengelas D, Youroukos S, et al. Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord, 2013, 28(8): 1058-1063 [82]Carta M, Bezard E. Contribution of presynaptic mechanisms to l-DOPA-induced dyskinesia. Neuroscience, 2011, 198: 245-251 |
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