메뉴 건너뛰기




Volumn 79, Issue 5, 2012, Pages 435-441

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA; ROPINIROLE; SELEGILINE; TYROSINE 3 MONOOXYGENASE;

EID: 84866087908     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318261714a     Document Type: Article
Times cited : (42)

References (40)
  • 1
    • 0031721663 scopus 로고    scopus 로고
    • Biochemical hallmarks of tyrosine hydroxylase deficiency
    • Brautigam C, Wevers RA, Jansen RJT, et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998;44:1897-1904.
    • (1998) Clin Chem , vol.44 , pp. 1897-1904
    • Brautigam, C.1    Wevers, R.A.2    Jansen, R.J.T.3
  • 2
    • 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: 1810-1822.
    • (2010) Brain , vol.133 , pp. 1810-1822
    • Willemsen, M.A.1    Verbeek, M.M.2    Kamsteeg, E.J.3
  • 3
    • 0032710990 scopus 로고    scopus 로고
    • Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
    • Brautigam C, Steenbergen-Spanjers GCH, Hoffmann GF, et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999;45:2073-2078.
    • (1999) Clin Chem , vol.45 , pp. 2073-2078
    • Brautigam, C.1    Steenbergen-Spanjers, G.C.H.2    Hoffmann, G.F.3
  • 4
    • 17744394691 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical resentation
    • De Lonlay P, Nassogne MC, van Gennip AH, et al. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical resentation. J Inherit Metab Dis 2000;23:819-825.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 819-825
    • De Lonlay, P.1    Nassogne, M.C.2    Van Gennip, A.H.3
  • 5
    • 0034719035 scopus 로고    scopus 로고
    • L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
    • de Rijk-van Andel JF, Gabreels FJM, Geurtz B, et al. L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. Neurology 2000;55:1926-1928.
    • (2000) Neurology , vol.55 , pp. 1926-1928
    • De Rijk-Van Andel, J.F.1    Gabreels, F.J.M.2    Geurtz, B.3
  • 6
    • 22844448859 scopus 로고    scopus 로고
    • Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
    • Diepold K, Schutz 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;20:764-767.
    • (2005) Mov Disord , vol.20 , pp. 764-767
    • Diepold, K.1    Schutz, B.2    Rostasy, K.3
  • 8
    • 34848916085 scopus 로고    scopus 로고
    • A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis
    • Ribases M, Serrano M, Fernandez-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; 92:274-277.
    • (2007) Mol Genet Metab , vol.92 , pp. 274-277
    • Ribases, M.1    Serrano, M.2    Fernandez-Alvarez, E.3
  • 9
    • 36148933338 scopus 로고    scopus 로고
    • Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
    • Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, et al. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Ann Neurol 2007;62:422-426.
    • (2007) Ann Neurol , vol.62 , pp. 422-426
    • Verbeek, M.M.1    Steenbergen-Spanjers, G.C.2    Willemsen, M.A.3
  • 10
    • 17144432891 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
    • Hoffmann GF, Assmann B, Brautigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 2003;54: S56-S65.
    • (2003) Ann Neurol , vol.54
    • Hoffmann, G.F.1    Assmann, B.2    Brautigam, C.3
  • 11
    • 0037154246 scopus 로고    scopus 로고
    • Myoclonus dystonia: Possible association with obsessivecompulsive disorder and alcohol dependence
    • Saunders-Pullman R, Shriberg J, Heiman G, et al. Myoclonus dystonia: possible association with obsessivecompulsive disorder and alcohol dependence. Neurology 2002;58:242-245.
    • (2002) Neurology , vol.58 , pp. 242-245
    • Saunders-Pullman, R.1    Shriberg, J.2    Heiman, G.3
  • 12
    • 67651146609 scopus 로고    scopus 로고
    • "Jerky" dystonia in children: Spectrum of phenotypes and genetic testing
    • Asmus F, Langseth A, Doherty E, et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord 2009;24:702-709.
    • (2009) Mov Disord , vol.24 , pp. 702-709
    • Asmus, F.1    Langseth, A.2    Doherty, E.3
  • 13
    • 33847029189 scopus 로고    scopus 로고
    • Myoclonusdystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
    • Hess CW, Raymond D, Aguiar Pde C, et al. Myoclonusdystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007;68: 522-524.
    • (2007) Neurology , vol.68 , pp. 522-524
    • Hess, C.W.1    Raymond, D.2    Aguiar Pde, C.3
  • 15
    • 3442887465 scopus 로고    scopus 로고
    • Genetic heterogeneity in ten families with myoclonus-dystonia
    • Schule B, Kock N, Svetel M, et al. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2004;75:1181-1185.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 1181-1185
    • Schule, B.1    Kock, N.2    Svetel, M.3
  • 16
    • 39549102002 scopus 로고    scopus 로고
    • Myoclonusdystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
    • Nardocci N, Zorzi G, Barzaghi C, et al. Myoclonusdystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord 2008;23: 28-34.
    • (2008) Mov Disord , vol.23 , pp. 28-34
    • Nardocci, N.1    Zorzi, G.2    Barzaghi, C.3
  • 17
    • 27644437164 scopus 로고    scopus 로고
    • Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
    • Asmus F, Salih F, Hjermind LE, et al. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann Neurol 2005;58:792-797.
    • (2005) Ann Neurol , vol.58 , pp. 792-797
    • Asmus, F.1    Salih, F.2    Hjermind, L.E.3
  • 18
    • 0028956673 scopus 로고
    • Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1
    • Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE. Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet 1995;47: 90-95.
    • (1995) Clin Genet , vol.47 , pp. 90-95
    • Marinoni, J.C.1    Stevenson, R.E.2    Evans, J.P.3    Geshuri, D.4    Phelan, M.C.5    Schwartz, C.E.6
  • 19
    • 80055091462 scopus 로고    scopus 로고
    • Expanding the phenomenology of benign hereditary chorea: Evolution from chorea to myoclonus and dystonia
    • Armstrong MJ, Shah BB, Chen R, Angel MJ, Lang AE. Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord 2011;26:2296-2297.
    • (2011) Mov Disord , vol.26 , pp. 2296-2297
    • Armstrong, M.J.1    Shah, B.B.2    Chen, R.3    Angel, M.J.4    Lang, A.E.5
  • 20
    • 0037159199 scopus 로고    scopus 로고
    • Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
    • Leuzzi V, Carducci C, Cardona F, Artiola C, Antonozzi I. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002;59:1241-1243.
    • (2002) Neurology , vol.59 , pp. 1241-1243
    • Leuzzi, V.1    Carducci, C.2    Cardona, F.3    Artiola, C.4    Antonozzi, I.5
  • 21
    • 0036589965 scopus 로고    scopus 로고
    • Myoclonic dystonia as unique presentation of isolated vitamin e deficiency in a young patient
    • Angelini L, Erba A, Mariotti C, Gellera C, Ciano C, Nardocci N. Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. Mov Disord 2002;17:612-614.
    • (2002) Mov Disord , vol.17 , pp. 612-614
    • Angelini, L.1    Erba, A.2    Mariotti, C.3    Gellera, C.4    Ciano, C.5    Nardocci, N.6
  • 22
    • 67650087651 scopus 로고    scopus 로고
    • Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with dopa-responsive dystonia
    • Clot F, Grabli D, Cazeneuve C, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with dopa-responsive dystonia. Brain 2009;132:1753-1763.
    • (2009) Brain , vol.132 , pp. 1753-1763
    • Clot, F.1    Grabli, D.2    Cazeneuve, C.3
  • 23
    • 67349085037 scopus 로고    scopus 로고
    • Disorders of biopterin metabolism
    • Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis 2009;32:333-342.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 333-342
    • Longo, N.1
  • 24
    • 46149085849 scopus 로고    scopus 로고
    • Mitochondrial diseases mimicking neurotransmitter defects
    • Garcia-Cazorla A, Duarte S, Serrano M, et al. Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion 2008;8:273-278.
    • (2008) Mitochondrion , vol.8 , pp. 273-278
    • Garcia-Cazorla, A.1    Duarte, S.2    Serrano, M.3
  • 26
    • 41349090135 scopus 로고    scopus 로고
    • Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations
    • Roze E, Apartis E, Clot F, et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology 2008;70:1010-1016.
    • (2008) Neurology , vol.70 , pp. 1010-1016
    • Roze, E.1    Apartis, E.2    Clot, F.3
  • 27
    • 33646411481 scopus 로고    scopus 로고
    • Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
    • Tezenas du Montcel S, Clot F, Vidailhet M, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet 2006;43:394-400.
    • (2006) J Med Genet , vol.43 , pp. 394-400
    • Tezenas Du Montcel, S.1    Clot, F.2    Vidailhet, M.3
  • 29
    • 0344435235 scopus 로고    scopus 로고
    • A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
    • Wevers RA, de Rijk-van Andel JF, Brautigam C, et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inherit Metab Dis 1999;22:364-373.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 364-373
    • Wevers, R.A.1    De Rijk-Van Andel, J.F.2    Brautigam, C.3
  • 30
    • 79551652126 scopus 로고    scopus 로고
    • Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
    • Yeung WL, Wong VC, Chan KY, et al. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. J Child Neurol 2011;26:179-187.
    • (2011) J Child Neurol , vol.26 , pp. 179-187
    • Yeung, W.L.1    Wong, V.C.2    Chan, K.Y.3
  • 31
    • 0030035985 scopus 로고    scopus 로고
    • Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
    • Ludecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996;5: 1023-1028.
    • (1996) Hum Mol Genet , vol.5 , pp. 1023-1028
    • Ludecke, B.1    Knappskog, P.M.2    Clayton, P.T.3
  • 32
    • 0028984349 scopus 로고
    • L-DOPA is converted to dopamine in serotonergic fibers of the striatum of the rat: A double-labeling immunofluorescence study
    • Arai R, Karasawa N, Geffard M, Nagatsu I. L-DOPA is converted to dopamine in serotonergic fibers of the striatum of the rat: a double-labeling immunofluorescence study. Neurosci Lett 1995;195:195-198.
    • (1995) Neurosci Lett , vol.195 , pp. 195-198
    • Arai, R.1    Karasawa, N.2    Geffard, M.3    Nagatsu, I.4
  • 33
    • 0029671293 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase is present in serotonergic fibers of the striatum of the rat: A double-labeling immunofluorescence study
    • Arai R, Karasawa N, Nagatsu I. Aromatic L-amino acid decarboxylase is present in serotonergic fibers of the striatum of the rat: a double-labeling immunofluorescence study. Brain Res 1996;706:177-179.
    • (1996) Brain Res , vol.706 , pp. 177-179
    • Arai, R.1    Karasawa, N.2    Nagatsu, I.3
  • 34
    • 38649101598 scopus 로고    scopus 로고
    • Long-term L-DOPA treatment causes indiscriminate increase in dopamine levels at the cost of serotonin synthesis in discrete brain regions of rats
    • Borah A, Mohanakumar KP. Long-term L-DOPA treatment causes indiscriminate increase in dopamine levels at the cost of serotonin synthesis in discrete brain regions of rats. Cell Mol Neurobiol 2007;27:985-996.
    • (2007) Cell Mol Neurobiol , vol.27 , pp. 985-996
    • Borah, A.1    Mohanakumar, K.P.2
  • 35
    • 78650591431 scopus 로고    scopus 로고
    • Chronic L-DOPA therapy alters central serotonergic function and L-DOPA-induced dopamine release in a regiondependent manner in a rat model of Parkinson's disease
    • Navailles S, Bioulac B, Gross C, De Deurwaerdere P. Chronic L-DOPA therapy alters central serotonergic function and L-DOPA-induced dopamine release in a regiondependent manner in a rat model of Parkinson's disease. Neurobiol Dis 2011;41:585-590.
    • (2011) Neurobiol Dis , vol.41 , pp. 585-590
    • Navailles, S.1    Bioulac, B.2    Gross, C.3    De Deurwaerdere, P.4
  • 36
    • 0031054257 scopus 로고    scopus 로고
    • Tyrosine hydroxylase gene promoter activity is regulated by both cyclic AMP-responsive element and AP1 sites following calcium influx: Evidence for cyclic AMPresponsive element binding protein-independent regulation
    • Nagamoto-Combs K, Piech KM, Best JA, Sun B, Tank AW. Tyrosine hydroxylase gene promoter activity is regulated by both cyclic AMP-responsive element and AP1 sites following calcium influx: evidence for cyclic AMPresponsive element binding protein-independent regulation. J Biol Chem 1997;272:6051-6058.
    • (1997) J Biol Chem , vol.272 , pp. 6051-6058
    • Nagamoto-Combs, K.1    Piech, K.M.2    Best, J.A.3    Sun, B.4    Tank, A.W.5
  • 37
    • 0029095907 scopus 로고
    • The cyclic AMP response element directs tyrosine hydroxylase expression in catecholaminergic central and peripheral nervous system cell lines from transgenic mice
    • Lazaroff M, Patankar S, Yoon SO, Chikaraishi DM. The cyclic AMP response element directs tyrosine hydroxylase expression in catecholaminergic central and peripheral nervous system cell lines from transgenic mice. J Biol Chem 1995;270:21579-21589.
    • (1995) J Biol Chem , vol.270 , pp. 21579-21589
    • Lazaroff, M.1    Patankar, S.2    Yoon, S.O.3    Chikaraishi, D.M.4
  • 38
    • 0030814764 scopus 로고    scopus 로고
    • Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription
    • Tinti C, Yang C, Seo H, et al. Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. J Biol Chem 1997;272: 19158-19164.
    • (1997) J Biol Chem , vol.272 , pp. 19158-19164
    • Tinti, C.1    Yang, C.2    Seo, H.3
  • 39
    • 0031901965 scopus 로고    scopus 로고
    • A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
    • van den Heuvel L, Luiten B, Smeitink JAM, et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum Genet 1998;102:644-646.
    • (1998) Hum Genet , vol.102 , pp. 644-646
    • Van Den Heuvel, L.1    Luiten, B.2    Smeitink, J.A.M.3
  • 40
    • 77953529049 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency in three greek patients with a common ancestral mutation
    • Pons R, Serrano M, Ormazabal A, et al. Tyrosine hydroxylase deficiency in three greek patients with a common ancestral mutation. Mov Disord 2010;25:1086-1090.
    • (2010) Mov Disord , vol.25 , pp. 1086-1090
    • Pons, R.1    Serrano, M.2    Ormazabal, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.