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Volumn 16, Issue 4, 2014, Pages 275-291

Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; ADRENALIN; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; ARIPIPRAZOLE; AROMATIC LEVO AMINO ACID DECARBOXYLASE; BROMOCRIPTINE; CABERGOLINE; DIHYDROPTERIDINE REDUCTASE; DOPAMINE; DOPAMINE RECEPTOR; ENTACAPONE; FOLIC ACID; FOLINIC ACID; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MONOAMINE; MONOAMINE DERIVATIVE; NEUROTRANSMITTER; NORADRENALIN; PERGOLIDE; PRAMIPEXOLE; PYRIDOXINE; ROPINIROLE; SELEGILINE; SEPIAPTERIN REDUCTASE; SEROTONIN; TETRAHYDROBIOPTERIN; TYROSINE 3 MONOOXYGENASE; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; CATECHOLAMINE;

EID: 84905560981     PISSN: 11745878     EISSN: 11792019     Source Type: Journal    
DOI: 10.1007/s40272-014-0079-z     Document Type: Review
Times cited : (41)

References (79)
  • 1
    • 85047655447 scopus 로고    scopus 로고
    • Catecholamines in the periphery
    • Goldstein DS. Catecholamines in the periphery. Overview Adv Pharmacol. 1998;42:629-39.
    • (1998) Overview Adv Pharmacol , vol.42 , pp. 629-639
    • Goldstein, D.S.1
  • 2
    • 0032478596 scopus 로고    scopus 로고
    • Serotonin and vasoconstrictor synergism
    • DOI 10.1016/S0024-3205(97)01166-1, PII S0024320597011661
    • Yildiz O, Smith JR, Purdy RE. Serotonin and vasoconstrictor synergism. Life Sci. 1998;62:1723-32. (Pubitemid 28189408)
    • (1998) Life Sciences , vol.62 , Issue.19 , pp. 1723-1732
    • Yildiz, O.1    Smith, J.R.2    Purdy, R.E.3
  • 3
    • 66649121664 scopus 로고    scopus 로고
    • Movement disorders in children: Recent advances in management
    • Fernandez-Alvarez E. Movement disorders in children: recent advances in management. Indian J Pediatr. 2009;76:531-6.
    • (2009) Indian J Pediatr , vol.76 , pp. 531-536
    • Fernandez-Alvarez, E.1
  • 4
    • 19744378296 scopus 로고    scopus 로고
    • Levodopa and the progression of Parkinson's disease
    • Fahn S, Oakes D, Shoulson I, et al. Levodopa and the progression of Parkinson's disease. N Engl J Med. 2004;351:2498-508.
    • (2004) N Engl J Med , vol.351 , pp. 2498-2508
    • Fahn, S.1    Oakes, D.2    Shoulson, I.3
  • 5
    • 84860182098 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy
    • Friedman J, Roze E, Abdenau JE, et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012;71:520-30.
    • (2012) Ann Neurol , vol.71 , pp. 520-530
    • Friedman, J.1    Roze, E.2    Abdenau, J.E.3
  • 7
    • 0013496095 scopus 로고
    • The distribution of monoamine oxidases A and B in normal human brain
    • Leiberman A, Olanow CW, Youdim MBH, Tipton K, editors. New York: Marcel Dekker
    • Westlund KN. The distribution of monoamine oxidases A and B in normal human brain. In: Leiberman A, Olanow CW, Youdim MBH, Tipton K, editors. Monoamine oxidase inhibitors in neurological disease. New York: Marcel Dekker; 1994. p. 1-20.
    • (1994) Monoamine Oxidase Inhibitors in Neurological Disease , pp. 1-20
    • Westlund, K.N.1
  • 8
    • 67349128365 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: Clinical features, drug therapy and follow up
    • Manegold C, Hoffmann GF, Degen I, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow up. J Inherit Metab Dis. 2009;32:371-80.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 371-380
    • Manegold, C.1    Hoffmann, G.F.2    Degen, I.3
  • 9
    • 77951854889 scopus 로고    scopus 로고
    • Efficacy, safety and tolerability of SymbyaxAR for acute-phase management of treatment-resistant depression
    • Bobo WV, Shelton RC. Efficacy, safety and tolerability of SymbyaxAR for acute-phase management of treatment-resistant depression. Expert Rev Neurother. 2010;10:651-70.
    • (2010) Expert Rev Neurother , vol.10 , pp. 651-670
    • Bobo, W.V.1    Shelton, R.C.2
  • 10
    • 63449116676 scopus 로고    scopus 로고
    • A new perspective on the treatment of aromatic l-amino acid decarboxylase deficiency
    • Allen GF, Land JM, Heales SJR. A new perspective on the treatment of aromatic l-amino acid decarboxylase deficiency. Mol Genet Metab. 2009;97:6-14.
    • (2009) Mol Genet Metab , vol.97 , pp. 6-14
    • Allen, G.F.1    Land, J.M.2    Heales, S.J.R.3
  • 11
    • 84863193433 scopus 로고    scopus 로고
    • Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
    • Grapp M, Just IA, Linnankivi T, et al. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain. 2012;135(Pt 7):2022-31.
    • (2012) Brain , vol.135 , Issue.PART 7 , pp. 2022-2031
    • Grapp, M.1    Just, I.A.2    Linnankivi, T.3
  • 12
    • 84858706588 scopus 로고    scopus 로고
    • Dopamine agonists in dihydropteridine reductase deficiency
    • Porta F, Mussa A, Concolino D, et al. Dopamine agonists in dihydropteridine reductase deficiency. Mol Genet Metab. 2012;105:582-4.
    • (2012) Mol Genet Metab , vol.105 , pp. 582-584
    • Porta, F.1    Mussa, A.2    Concolino, D.3
  • 14
    • 0025280147 scopus 로고
    • L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans
    • Surtees R, Hyland K. L-3,4-dihydroxyphenylalanine (Levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans. J Neurol Neurosurg Psychiatry. 1990;53:569-72. (Pubitemid 20240008)
    • (1990) Journal of Neurology Neurosurgery and Psychiatry , vol.53 , Issue.7 , pp. 569-572
    • Surtees, R.1    Hyland, K.2
  • 16
    • 60549116697 scopus 로고    scopus 로고
    • Autosomal dominant GTP cyclohydrolase 1 (AD GCH1) deficiency (Segawa disease, dystonia 5, DYT 5)
    • Segawa M. Autosomal dominant GTP cyclohydrolase 1 (AD GCH1) 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
  • 17
    • 80052805094 scopus 로고
    • GTP cyclohydrolase 1-deficient dopa-responsive dystonia
    • Seattle: University of Washington
    • Furukawa Y, Pagon RA, Adam MP, et al. GTP cyclohydrolase 1-deficient dopa-responsive dystonia. Gene reviews. Seattle: University of Washington; 1993-2013.
    • (1993) Gene Reviews
    • Furukawa, Y.1    Pagon, R.A.2    Adam, M.P.3
  • 18
    • 79251612080 scopus 로고    scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev. 2011;22:195-201.
    • (2011) Brain Dev , vol.22 , pp. 195-201
    • Segawa, M.1
  • 19
    • 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;14:215-33.
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 20
    • 67849106621 scopus 로고    scopus 로고
    • Autosomal-dominant GTPCH1-deficiency DRD: Clinical characteristics and long-term outcome of 34 patients
    • Trender-Gerhard I, Sweeney MG, et al. Autosomal-dominant GTPCH1-deficiency DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009;80:839-45.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 839-845
    • Trender-Gerhard, I.1    Sweeney, M.G.2
  • 21
    • 80052788701 scopus 로고    scopus 로고
    • Dopa-responsive dystonia with a novel initiation mutation in the GCH1 gene misdiagnoses as cerebral palsy
    • Lee JH, Ki CS, Kim DS, et al. Dopa-responsive dystonia with a novel initiation mutation in the GCH1 gene misdiagnoses as cerebral palsy. J Korean Med Sci. 2011;26:1244-6.
    • (2011) J Korean Med Sci , vol.26 , pp. 1244-1246
    • Lee, J.H.1    Ki, C.S.2    Kim, D.S.3
  • 22
    • 4644320302 scopus 로고    scopus 로고
    • Misdiagnoses in children with dopa-responsive dystonia
    • DOI 10.1016/j.pediatrneurol.2004.03.017, PII S0887899404002231
    • Jan MMS. Misdiagnosis in children with Dopa responsive dystonia. J Pediatr Neurol. 2004;31:298-303. (Pubitemid 39298460)
    • (2004) Pediatric Neurology , vol.31 , Issue.4 , pp. 298-303
    • Jan, M.M.S.1
  • 23
    • 77953940705 scopus 로고    scopus 로고
    • Familial paroxysmal exercise-induced dystonia: Atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency
    • Dale RC, Melchers A, Fung VS, et al. Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency. Dev Med Child Neurol. 2010;52:583-6.
    • (2010) Dev Med Child Neurol , vol.52 , pp. 583-586
    • Dale, R.C.1    Melchers, A.2    Fung, V.S.3
  • 25
    • 79960352475 scopus 로고    scopus 로고
    • The monoamine neuro-transmitter disorders: An expanding range of neurological syndromes
    • Kurian MA, Gissen P, Smith M, et al. The monoamine neuro-transmitter disorders: an expanding range of neurological syndromes. Lancet Neurol. 2011;10:721-33.
    • (2011) Lancet Neurol , vol.10 , pp. 721-733
    • Kurian, M.A.1    Gissen, P.2    Smith, M.3
  • 26
    • 84861632484 scopus 로고    scopus 로고
    • Dyskinesias as a limiting factor in the treatment of Segawa disease
    • Lopez-Laso E, Beyer K, Opladen T, et al. Dyskinesias as a limiting factor in the treatment of Segawa disease. Pediatr Neurol. 2012;46:404-6.
    • (2012) Pediatr Neurol , vol.46 , pp. 404-406
    • Lopez-Laso, E.1    Beyer, K.2    Opladen, T.3
  • 27
    • 0034914530 scopus 로고    scopus 로고
    • The long-term response to levodopa in dopa-responsive dystonia
    • Hwang WJ, Calne JKC, Tsui R, et al. The long-term response to levodopa in dopa-responsive dystonia. Parkinson Relat Disord. 2008;8:1-5.
    • (2008) Parkinson Relat Disord , vol.8 , pp. 1-5
    • Hwang, W.J.1    Calne, J.K.C.2    Tsui, R.3
  • 28
    • 0035798563 scopus 로고    scopus 로고
    • Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvolytetrahydrobiopterin synthase knockout mice
    • Sumi-Ichinose C, Urano F, Kuroda R, et al. Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvolytetrahydrobiopterin synthase knockout mice. J Biol Chem. 2001;276:41150-60.
    • (2001) J Biol Chem , vol.276 , pp. 41150-41160
    • Sumi-Ichinose, C.1    Urano, F.2    Kuroda, R.3
  • 29
    • 0035099949 scopus 로고    scopus 로고
    • Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    • Bonafe L, Thony B, Leimbacjer W, et al. Diagnosis of doparesponsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem. 2001;47:477-85. (Pubitemid 32222462)
    • (2001) Clinical Chemistry , vol.47 , Issue.3 , pp. 477-485
    • Bonafe, L.1    Thony, B.2    Leimbacher, W.3    Kierat, L.4    Blau, N.5
  • 30
    • 41949127862 scopus 로고    scopus 로고
    • Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evident of a phenotypic continuum between dominant and recessive forms
    • Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovi R, et al. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evident of a phenotypic continuum between dominant and recessive forms. Mol Genet Metab. 2008;94:127-31.
    • (2008) Mol Genet Metab , vol.94 , pp. 127-131
    • Horvath, G.A.1    Stockler-Ipsiroglu, S.G.2    Salvarinova-Zivkovi, R.3
  • 31
    • 79951478032 scopus 로고    scopus 로고
    • Clinical and biochemical characterisation of patients with early infantile onset of autosomal recessive GTP cyclohydrolase 1 deficiency without hyperphenylalaninemia
    • Opladen T, Hoffmann G, Horster F, et al. Clinical and biochemical characterisation of patients with early infantile onset of autosomal recessive GTP cyclohydrolase 1 deficiency without hyperphenylalaninemia. Mov Disord. 2011;25:157-61.
    • (2011) Mov Disord , vol.25 , pp. 157-161
    • Opladen, T.1    Hoffmann, G.2    Horster, F.3
  • 32
    • 67349085037 scopus 로고    scopus 로고
    • Disorders of biopterin metabolism
    • Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009;32:333-42.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 333-342
    • Longo, N.1
  • 33
    • 84867861085 scopus 로고    scopus 로고
    • An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
    • Opladen T, Hoffmann GF, Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis. 2012;35:963-73.
    • (2012) J Inherit Metab Dis , vol.35 , pp. 963-973
    • Opladen, T.1    Hoffmann, G.F.2    Blau, N.3
  • 34
    • 84905593759 scopus 로고
    • Birthweight in patients with defective biopterin metabolism
    • Smith I, Dhondt JL. Birthweight in patients with defective biopterin metabolism. Lancet. 1983;33:2417-24.
    • (1983) Lancet , vol.33 , pp. 2417-2424
    • Smith, I.1    Dhondt, J.L.2
  • 35
    • 84905587684 scopus 로고    scopus 로고
    • Phenotypic variability, neurological outcome and genetic background of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency
    • Leuzzi V, Carducci CA, Carducci CL, et al. Phenotypic variability, neurological outcome and genetic background of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency. Clin Genet. 2010;26:157-61.
    • (2010) Clin Genet , vol.26 , pp. 157-161
    • Leuzzi, V.1    Carducci, C.A.2    Carducci, C.L.3
  • 37
    • 69449101918 scopus 로고    scopus 로고
    • Dopamine agonists in 6-pyruvoyl tetrahydrobiopterin synthase deficiency
    • Porta F, Mussa A, Concolino D, et al. Dopamine agonists in 6-pyruvoyl tetrahydrobiopterin synthase deficiency. Neurology. 2009;73:633-6.
    • (2009) Neurology , vol.73 , pp. 633-636
    • Porta, F.1    Mussa, A.2    Concolino, D.3
  • 38
    • 84858052269 scopus 로고    scopus 로고
    • Child neurology: Paroxysmal stiffening, upward gaze, and hypotonia: Hallmarks of sepiapterin reductase deficiency
    • Dill P, Wagner M, Somerville A, et al. Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology. 2012;31(78):29-32.
    • (2012) Neurology , vol.31 , Issue.78 , pp. 29-32
    • Dill, P.1    Wagner, M.2    Somerville, A.3
  • 39
    • 26044449033 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency: A congenital dopa-responsive motor and cognitive disorder
    • DOI 10.1093/brain/awh603
    • Neville BG, Parascandalo R, Farrugia R, et al. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain. 2005;128:2291-6. (Pubitemid 41407969)
    • (2005) Brain , vol.128 , Issue.10 , pp. 2291-2296
    • Neville, B.G.R.1    Parascandalo, R.2    Farrugia, R.3    Felice, A.4
  • 40
    • 33845709898 scopus 로고    scopus 로고
    • Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
    • DOI 10.1212/01.wnl.0000247274.21261.b4, PII 0000611420061212000027
    • Friedman J, Hyland K, Blau N, et al. Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology. 2006;67:2032-5. (Pubitemid 44967384)
    • (2006) Neurology , vol.67 , Issue.11 , pp. 2032-2035
    • Friedman, J.1    Hyland, K.2    Blau, N.3    MacCollin, M.4
  • 41
    • 59449086328 scopus 로고    scopus 로고
    • Quantitative regulation of intracellular endothelila nitric-oxide synthase (eNOS) coupling by tetrahydrobiopterin-eNOS stoichiometry and biopterin redox status: Insights from cells with tet-regulated GTP-cyclohydroxylase I expression
    • Crabtree MJ, Tatham Al, Al Wakeel Y, et al. Quantitative regulation of intracellular endothelila nitric-oxide synthase (eNOS) coupling by tetrahydrobiopterin-eNOS stoichiometry and biopterin redox status: insights from cells with tet-regulated GTP-cyclohydroxylase I expression. J Biol Chem. 2009;294:1136-44.
    • (2009) J Biol Chem , vol.294 , pp. 1136-1144
    • Crabtree, M.J.1    Tatham, Al.2    Al Wakeel, Y.3
  • 42
    • 77952995720 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency; a treatable disorder of brain catecholamine biosynthesis
    • Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency; a treatable disorder of brain catecholamine biosynthesis. Brain. 2010;133:1810-22.
    • (2010) Brain , vol.133 , pp. 1810-1822
    • Willemsen, M.A.1    Verbeek, M.M.2    Kamsteeg, E.J.3
  • 44
    • 84881557335 scopus 로고    scopus 로고
    • Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency
    • Pons R, Syrengelas D, Youroukos S, et al. Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord. 2013;28:1058-63.
    • (2013) Mov Disord , vol.28 , pp. 1058-1063
    • Pons, R.1    Syrengelas, D.2    Youroukos, S.3
  • 45
    • 77954648861 scopus 로고    scopus 로고
    • Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
    • Brun L, Ngu LH, Chang GS, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75:64-71.
    • (2010) Neurology , vol.75 , pp. 64-71
    • Brun, L.1    Ngu, L.H.2    Chang, G.S.3
  • 47
    • 60749135051 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency in Taiwan
    • Lee H, Tsai CR, Chi CS, et al. Aromatic L-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol. 2009;13:135-40.
    • (2009) Eur J Paediatr Neurol , vol.13 , pp. 135-140
    • Lee, H.1    Tsai, C.R.2    Chi, C.S.3
  • 48
    • 84876150648 scopus 로고    scopus 로고
    • Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency
    • Mastrangelo M, Caputi C, Galosi S, et al. Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. Mov Disord. 2012;28:556-7.
    • (2012) Mov Disord , vol.28 , pp. 556-557
    • Mastrangelo, M.1    Caputi, C.2    Galosi, S.3
  • 49
    • 77953309139 scopus 로고    scopus 로고
    • Pyridoxal 50 phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patient and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B6 deficiency states
    • Allen GF, Neergheen V, Oppenheim M, et al. Pyridoxal 50 phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patient and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B6 deficiency states. J Neurochem. 2010;114:87-96.
    • (2010) J Neurochem , vol.114 , pp. 87-96
    • Allen, G.F.1    Neergheen, V.2    Oppenheim, M.3
  • 50
    • 0026785903 scopus 로고
    • Aromatic l-amino acid decarboxylase deficiency: Clinical features, diagnosis and treatment of a new inborn error of neurotransmitter amine synthesis
    • Hyland K, Surtees RAH, Rodeck C, et al. Aromatic l-amino acid decarboxylase deficiency: clinical features, diagnosis and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology. 1992;42:1980-8.
    • (1992) Neurology , vol.42 , pp. 1980-1988
    • Hyland, K.1    Surtees, R.A.H.2    Rodeck, C.3
  • 51
    • 0030961201 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: Clinical feature
    • Maller A, Hyland K, Milstein S, et al. Aromatic L-amino acid decarboxylase deficiency: clinical feature. J Child Neurol. 1997;12:349-54.
    • (1997) J Child Neurol , vol.12 , pp. 349-354
    • Maller, A.1    Hyland, K.2    Milstein, S.3
  • 52
    • 1642463326 scopus 로고    scopus 로고
    • Instability of the Apo Form of Aromatic L-Amino Acid Decarboxylase In Vivo and In Vitro: Implications for the Involvement of the Flexible Loop That Covers the Active Site
    • DOI 10.1093/jb/mvh004
    • Matsuda N, Hayaashi H, Miyatake T, et al. Instability of the apo form of aromatic a L-amino acid decarboxylase activity in vivo and in vitro: implications for the involvement of the flexible loop that covers the active site. J Biochem. 2004;135:33-42. (Pubitemid 38405159)
    • (2004) Journal of Biochemistry , vol.135 , Issue.1 , pp. 33-42
    • Matsuda, N.1    Hayashi, H.2    Miyatake, S.3    Kuroiwa, T.4    Kagamiyama, H.5
  • 53
    • 0042868556 scopus 로고    scopus 로고
    • Aromatic l-amino acid decarboxylase deficiency overview of clinical features and outcomes
    • Swodoba KJ, Saul JP, McKenna CE, et al. Aromatic l-amino acid decarboxylase deficiency overview of clinical features and outcomes. Ann Neurol. 2003;54:264-70.
    • (2003) Ann Neurol , vol.54 , pp. 264-270
    • Swodoba, K.J.1    Saul, J.P.2    McKenna, C.E.3
  • 54
    • 0026048168 scopus 로고
    • Inhibition of mono-amine oxidase-B by deprenyl potentials neuronal response to dopamine agonistics but does not inhibit dopamine catabolism in the rat striatum
    • Paterson IA, Juorio AV, Berry MY, et al. Inhibition of mono-amine oxidase-B by deprenyl potentials neuronal response to dopamine agonistics but does not inhibit dopamine catabolism in the rat striatum. J Pharmacol Exp Ther. 1991;258:1019-26.
    • (1991) J Pharmacol Exp Ther , vol.258 , pp. 1019-1026
    • Paterson, I.A.1    Juorio, A.V.2    Berry, M.Y.3
  • 55
    • 0030600511 scopus 로고    scopus 로고
    • Modulation of tyrosine hydroxylase and aromatic L-amino acid decarboxylase after inhibiting monoamine oxidase-A
    • Cho AM, Duchemin NH, Neff M, et al. Modulation of tyrosine hydroxylase and aromatic L-amino acid decarboxylase after inhibiting monoamine oxidase-A. Eur J Pharmacol. 1996;310:51-9.
    • (1996) Eur J Pharmacol , vol.310 , pp. 51-59
    • Cho, A.M.1    Duchemin, N.H.2    Neff, M.3
  • 56
    • 0022625466 scopus 로고
    • Inhibition of aromatic L-amino acid decarboxylase and tyrosine aminotransferase by the monoamine oxidase inhibitor phenelzine
    • Dyck LE, Dewar KM. Inhibition of aromatic l-amino decarboxylase and tyrosine aminotransferase by the monoamine oxidase inhibitor phenelzine. J Neurochem. 1986;46:1899-903. (Pubitemid 16095499)
    • (1986) Journal of Neurochemistry , vol.46 , Issue.6 , pp. 1899-1903
    • Dyck, L.E.1    Dewar, K.M.2
  • 57
    • 84861139370 scopus 로고    scopus 로고
    • Gene therapy for aromatic L-amino acid decarboxylase deficiency
    • Hwu WL, Muramatsu S, Tseng SH, et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med. 2012;4:134ra61.
    • (2012) Sci Transl Med , vol.4
    • Hwu, W.L.1    Muramatsu, S.2    Tseng, S.H.3
  • 58
    • 77954377790 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
    • Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010;133:218-59.
    • (2010) Brain , vol.133 , pp. 218-259
    • Mills, P.B.1    Footitt, E.J.2    Mills, K.A.3
  • 60
    • 79952768348 scopus 로고    scopus 로고
    • Multiple coregulatory control of tyrosine hydroxylase gene transcription
    • Reddy SD, Rayala SK, Ohshiro K, et al. Multiple coregulatory control of tyrosine hydroxylase gene transcription. Proc Natl Acad Sci USA. 2011;108:4200-5.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 4200-4205
    • Reddy, S.D.1    Rayala, S.K.2    Ohshiro, K.3
  • 61
    • 14244261010 scopus 로고    scopus 로고
    • 3,4-dihydroxyphenylalanine reverses the motor deficits in Pitx3-deficient aphakia mice: Behavioral characterization of a novel genetic model of Parkinson's disease
    • Hwang DY. 3,4-dihydroxyphenylalanine reverses the motor deficits in Pitx3-deficient aphakia mice: behavioral characterization of a novel genetic model of Parkinson's disease. J Neurosci. 2005;25:2132-7.
    • (2005) J Neurosci , vol.25 , pp. 2132-2137
    • Hwang, D.Y.1
  • 62
    • 0037786542 scopus 로고    scopus 로고
    • Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice
    • DOI 10.1016/S0169-328X(03)00162-1
    • Hwang D-Y, Ardayfio P, Kang UJ, Semina EV, Kim KS. Selective loss of dopaminergic neurons in the substantia nigra of Pitx3-deficient aphakia mice. Brain Res Mol Brain Res. 2003;114:123-31. (Pubitemid 36773553)
    • (2003) Molecular Brain Research , vol.114 , Issue.2 , pp. 123-131
    • Hwang, D.-Y.1    Ardayfio, P.2    Kang, U.J.3    Semina, E.V.4    Kim, K.-S.5
  • 63
    • 84855831958 scopus 로고    scopus 로고
    • Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid
    • Katarzyna Derwinska K, Mierzewska H, Goszczanska A, et al. Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid. Am J Med Genet B Neuropsychiatr Genet. 2012;159:236-42.
    • (2012) Am J Med Genet B Neuropsychiatr Genet , vol.159 , pp. 236-242
    • Katarzyna Derwinska, K.1    Mierzewska, H.2    Goszczanska, A.3
  • 64
    • 84873520463 scopus 로고    scopus 로고
    • Brain dopamine - serotonin vesicular transport disease and its treatment
    • Rilstone JJ, Alkhater RA, Minassian BA. Brain dopamine - serotonin vesicular transport disease and its treatment. NEJM. 2013;368:543-50.
    • (2013) NEJM , vol.368 , pp. 543-550
    • Rilstone, J.J.1    Alkhater, R.A.2    Minassian, B.A.3
  • 65
    • 67651007160 scopus 로고    scopus 로고
    • Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism dystonia
    • Kurian MA, Zhen J, Cheng SY, et al. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism dystonia. J Clin Invest. 2009;119:1595-603.
    • (2009) J Clin Invest , vol.119 , pp. 1595-1603
    • Kurian, M.A.1    Zhen, J.2    Cheng, S.Y.3
  • 66
    • 78650021942 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: An observational cohort and experimental study
    • Kurian MA, Li Y, Zhen J, et al. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol. 2011;10:54-62.
    • (2011) Lancet Neurol , vol.10 , pp. 54-62
    • Kurian, M.A.1    Li, Y.2    Zhen, J.3
  • 67
    • 84897882229 scopus 로고    scopus 로고
    • Dopamine transporter deficiency syndrome: Phenotypic spectrum from infancy to adulthood
    • Ng J, Zhen J, Meyer E, et al. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain. 2014;137:1107-19.
    • (2014) Brain , vol.137 , pp. 1107-1119
    • Ng, J.1    Zhen, J.2    Meyer, E.3
  • 68
    • 84905595600 scopus 로고    scopus 로고
    • Atypical dopamine transporter deficiency syndrome in an adult male: Molecular characterisation of new transporter variants
    • Program No.10.11. Society for Neuroscience; Online
    • Henriksen FH, Yasmeen S, Skjørringe T, et al. Atypical dopamine transporter deficiency syndrome in an adult male: molecular characterisation of new transporter variants. Program No.10.11. 2013 Neuroscience Meeting Planner. San Diego, CA: Society for Neuroscience; 2013. http://www.sfn.org/&z.ast;/ media/SfN/Documents/AnnualMeeting/FinalProgram/FullAbstractPDFs/ AbstractPDFs-Nano.ashx (Online).
    • (2013) 2013 Neuroscience Meeting Planner. San Diego, CA
    • Henriksen, F.H.1    Yasmeen, S.2    Skjørringe, T.3
  • 69
    • 34648846052 scopus 로고    scopus 로고
    • Secondary abnormalities of neurotransmitters in infants with neurological disorders
    • García-Cazorla A, Serrano M, Pérez-Dueñas B, et al. Secondary abnormalities of neurotransmitters in infants with neurological disorders. Dev Med Child Neurol. 2007;49:740-4.
    • (2007) Dev Med Child Neurol , vol.49 , pp. 740-744
    • García-Cazorla, A.1    Serrano, M.2    Pérez-Dueñas, B.3
  • 70
    • 84876833051 scopus 로고    scopus 로고
    • What is the role of dopamine in childhood neurological disorders?
    • Kurian MA. What is the role of dopamine in childhood neurological disorders? Dev Med Child Neurol. 2013;55(6):493-4.
    • (2013) Dev Med Child Neurol , vol.55 , Issue.6 , pp. 493-494
    • Kurian, M.A.1
  • 71
    • 84961402687 scopus 로고    scopus 로고
    • TH gene-negative infantile onset severe dopamine deficiency syndrome: A novel neurotransmitter disorder?
    • Ng J, Tuschl K, Kinali M, et al. TH gene-negative infantile onset severe dopamine deficiency syndrome: a novel neurotransmitter disorder? Dev Med Child Neurol. 2013;5(S1):15.
    • (2013) Dev Med Child Neurol , vol.5 , Issue.S1 , pp. 15
    • Ng, J.1    Tuschl, K.2    Kinali, M.3
  • 72
    • 39449138688 scopus 로고    scopus 로고
    • The pathophysiological basis of dystonias
    • Breakfield XO, Blood A, Li Y, et al. The pathophysiological basis of dystonias. Nat Rev Neurosci. 2008;9:222-43.
    • (2008) Nat Rev Neurosci , vol.9 , pp. 222-243
    • Breakfield, X.O.1    Blood, A.2    Li, Y.3
  • 74
    • 73449126291 scopus 로고    scopus 로고
    • Segawa syndrome due to mutation Q89X in the GCH1 gene: A possible founder effect in Cordoba (southern Spain)
    • Lopez-Laso E, Ochoa-Sepulveda JJ, Ochoa-Amor JJ, et al. Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Cordoba (southern Spain). J Neurol. 2009;256:1816-24.
    • (2009) J Neurol , vol.256 , pp. 1816-1824
    • Lopez-Laso, E.1    Ochoa-Sepulveda, J.J.2    Ochoa-Amor, J.J.3
  • 75
    • 0021251067 scopus 로고
    • Tetrabenazine-induced depletion of brain monoamines: Characterization and interaction with selected antidepressants
    • Pettibone DJ, Totaro JA, Pflueger AB. Tetrabenazine-induced depletion of brain monoamines: characterization and interaction with selected antidepressants. Eur J Pharmacol. 1984;20:425-30. (Pubitemid 14064081)
    • (1984) European Journal of Pharmacology , vol.102 , Issue.3-4 , pp. 425-430
    • Pettibone, D.J.1    Totaro, J.A.2    Pflueger, A.B.3
  • 76
    • 84905568045 scopus 로고    scopus 로고
    • Gabapentin can improve dystonia severity, transfers, sitting, sleep, mood and pain in children
    • Liow N, Marianczak J, Kirk E. et al. Gabapentin can improve dystonia severity, transfers, sitting, sleep, mood and pain in children EJPN. 2013;S18:O58-2017.
    • (2013) EJPN , vol.18
    • Liow, N.1    Marianczak, J.2    Kirk, E.3
  • 77
    • 79960348053 scopus 로고    scopus 로고
    • Pseudoexom exclusion by antisense therapy in 6-pyruvoyl- tetrahydrobiopterin synthase deficiency
    • Brasil S, Viecelli HM, Meili D, et al. Pseudoexom exclusion by antisense therapy in 6-pyruvoyl-tetrahydrobiopterin synthase deficiency. Hum Mutat. 2011;32:1019-27.
    • (2011) Hum Mutat , vol.32 , pp. 1019-1027
    • Brasil, S.1    Viecelli, H.M.2    Meili, D.3
  • 78
    • 84900799786 scopus 로고    scopus 로고
    • Inhibitors of catechol- O-methyl transferase in the treatment of neurological disorders
    • Jatana N, Apoorva N, Malik S, et al. Inhibitors of catechol- O-methyl transferase in the treatment of neurological disorders. Central Nerv Syst Agents Med Chem. 2014;2013(13):166-94.
    • (2014) Central Nerv Syst Agents Med Chem , vol.2013 , Issue.13 , pp. 166-194
    • Jatana, N.1    Apoorva, N.2    Malik, S.3
  • 79
    • 44949222522 scopus 로고    scopus 로고
    • Results from phase 1 safety trial of hAADC gene therapy for Parkinson disease
    • Eberling JL, Jaqust WJ, Christine CW, et al. Results from phase 1 safety trial of hAADC gene therapy for Parkinson disease. Neurology. 2008;80:1980-3.
    • (2008) Neurology , vol.80 , pp. 1980-1983
    • Eberling, J.L.1    Jaqust, W.J.2    Christine, C.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.