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Volumn , Issue , 2005, Pages 403-426

Neurogenetics of dystonia and paroxysmal dyskinesias

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EID: 84927076495     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (4)

References (146)
  • 1
    • 0000959954 scopus 로고
    • DystonicDisorders
    • Jankovic J, TolosaE, eds. Baltimore: Williams and Wilkins
    • Jankovic J, Fahn S. DystonicDisorders. In: Jankovic J, TolosaE, eds. Parkinson’s Disease and Movement Disorders. Baltimore: Williams and Wilkins, 1993: 337-374.
    • (1993) Parkinson’s Disease and Movement Disorders , pp. 337-374
    • Jankovic, J.1    Fahn, S.2
  • 2
    • 0023720988 scopus 로고
    • Investigation of dystonia
    • Marsden CD. Investigation of dystonia. Adv Neurol 1988; 50:35-44.
    • (1988) Adv Neurol , vol.50 , pp. 35-44
    • Marsden, C.D.1
  • 5
    • 0023675531 scopus 로고
    • Concept and classification of dystonia
    • Fahn S. Concept and classification of dystonia. Adv Neurol 1988; 50:1-8.
    • (1988) Adv Neurol , vol.50 , pp. 1-8
    • Fahn, S.1
  • 6
    • 0016348009 scopus 로고
    • Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients
    • Marsden CD, Harrison MJ. Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. Brain 1974; 97:793-810.
    • (1974) Brain , vol.97 , pp. 793-810
    • Marsden, C.D.1    Harrison, M.J.2
  • 8
    • 0142040246 scopus 로고    scopus 로고
    • Dystonia genotypes, phenotypes, and classification
    • Bressman SB. Dystonia genotypes, phenotypes, and classification. Adv Neurol 2004; 94:101-107.
    • (2004) Adv Neurol , vol.94 , pp. 101-107
    • Bressman, S.B.1
  • 11
    • 0032008670 scopus 로고    scopus 로고
    • Clinical and molecular genetics of primary dystonias
    • Muller U, Steinberger D, Nemeth AH. Clinical and molecular genetics of primary dystonias. Neurogenetics 1998; 1:165-177.
    • (1998) Neurogenetics , vol.1 , pp. 165-177
    • Muller, U.1    Steinberger, D.2    Nemeth, A.H.3
  • 13
    • 0021905769 scopus 로고
    • Is tardive dyskinesia a unique disorder?
    • Marsden CD. Is tardive dyskinesia a unique disorder? Psychopharmacology Suppl 1985; 2:64-71.
    • (1985) Psychopharmacology Suppl , vol.2 , pp. 64-71
    • Marsden, C.D.1
  • 17
    • 0030629694 scopus 로고    scopus 로고
    • Basal ganglia pathophysiology. A critical review
    • Obeso JA, Rodriguez MC, DeLong MR. Basal ganglia pathophysiology. A critical review. Adv Neurol 1997; 74:3-18.
    • (1997) Adv Neurol , vol.74 , pp. 3-18
    • Obeso, J.A.1    Rodriguez, M.C.2    DeLong, M.R.3
  • 18
    • 0031907472 scopus 로고    scopus 로고
    • The current model of basal ganglia organization under scrutiny
    • Parent A, Cicchetti F. The current model of basal ganglia organization under scrutiny. Mov Disord 1998; 13:199-202.
    • (1998) Mov Disord , vol.13 , pp. 199-202
    • Parent, A.1    Cicchetti, F.2
  • 19
    • 0034105157 scopus 로고    scopus 로고
    • Physiology of hypokinetic and hyperkinetic movement disorders: Model for dyskinesia
    • Vitek JL, Giroux M. Physiology of hypokinetic and hyperkinetic movement disorders: model for dyskinesia. Ann Neurol 2000; 47:S131-140.
    • (2000) Ann Neurol , vol.47 , pp. S131-S140
    • Vitek, J.L.1    Giroux, M.2
  • 21
    • 0023763763 scopus 로고
    • Positron emission tomographic studies of regional cerebral glucose metabolism in idiopathic dystonia
    • Chase TN, Tamminga CA, Burrows H. Positron emission tomographic studies of regional cerebral glucose metabolism in idiopathic dystonia. Adv Neurol 1988; 50:237-241.
    • (1988) Adv Neurol , vol.50 , pp. 237-241
    • Chase, T.N.1    Tamminga, C.A.2    Burrows, H.3
  • 24
    • 0023782521 scopus 로고
    • Dopamine agonists and antagonists in the treatment of idiopathic dystonia
    • Lang A. Dopamine agonists and antagonists in the treatment of idiopathic dystonia. Adv Neurol 1988; 50:561-570.
    • (1988) Adv Neurol , vol.50 , pp. 561-570
    • Lang, A.1
  • 25
    • 0023674737 scopus 로고
    • Brain dopaminergic system studied in patients with dystonia using positron emission tomography
    • Leenders KL, Quinn N, Frackowiak RS, Marsden CD. Brain dopaminergic system studied in patients with dystonia using positron emission tomography. Adv Neurol 1988; 50:243-247.
    • (1988) Adv Neurol , vol.50 , pp. 243-247
    • Leenders, K.L.1    Quinn, N.2    Frackowiak, R.S.3    Marsden, C.D.4
  • 27
    • 0031966589 scopus 로고    scopus 로고
    • The Neurophysiology of dystonia
    • Hallett M. The Neurophysiology of dystonia. Arch Neurol 1998; 55:601-603.
    • (1998) Arch Neurol , vol.55 , pp. 601-603
    • Hallett, M.1
  • 29
    • 0142103763 scopus 로고    scopus 로고
    • Focal hand dystonia may result from aberrant neuroplasticity
    • Byl NN. Focal hand dystonia may result from aberrant neuroplasticity. Adv Neurol 2004; 94:19-28.
    • (2004) Adv Neurol , vol.94 , pp. 19-28
    • Byl, N.N.1
  • 30
    • 0142040249 scopus 로고    scopus 로고
    • Dystonia: Abnormal movements result from loss of inhibition
    • Hallett M. Dystonia: abnormal movements result from loss of inhibition. Adv Neurol 2004; 94:1-9.
    • (2004) Adv Neurol , vol.94 , pp. 1-9
    • Hallett, M.1
  • 33
    • 0027930349 scopus 로고
    • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
    • Kramer PL, Heiman GA, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994; 55:468-475.
    • (1994) Am J Hum Genet , vol.55 , pp. 468-475
    • Kramer, P.L.1    Heiman, G.A.2
  • 34
    • 0026581762 scopus 로고
    • Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews
    • Ozelius LJ, Kramer PL, et al. Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992; 50:619-628.
    • (1992) Am J Hum Genet , vol.50 , pp. 619-628
    • Ozelius, L.J.1    Kramer, P.L.2
  • 38
    • 0028097164 scopus 로고
    • Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia
    • Bressman SB, Hunt AL, et al. Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia. Mov Disord 1994; 9:626-632.
    • (1994) Mov Disord , vol.9 , pp. 626-632
    • Bressman, S.B.1    Hunt, A.L.2
  • 41
    • 0036523711 scopus 로고    scopus 로고
    • Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
    • Opal P, Tintner R, Jankovic J, Leung J, Breakefield XO, Friedman J, Ozelius L. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord 2002; 17: 339-345.
    • (2002) Mov Disord , vol.17 , pp. 339-345
    • Opal, P.1    Tintner, R.2    Jankovic, J.3    Leung, J.4    Breakefield, X.O.5    Friedman, J.6    Ozelius, L.7
  • 46
    • 0032969563 scopus 로고    scopus 로고
    • AAA+:A class of chaperonelikeATPases associated with the assembly, operation, and disassembly of protein complexes
    • Neuwald AF, Aravind L, Spouge JL, Koonin EV. AAA+:A class of chaperonelikeATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res 1999; 9:27-43.
    • (1999) Genome Res , vol.9 , pp. 27-43
    • Neuwald, A.F.1    Aravind, L.2    Spouge, J.L.3    Koonin, E.V.4
  • 48
    • 0034623158 scopus 로고    scopus 로고
    • TorsinA and its torsion dystoniaassociated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
    • Kustedjo K, Bracey MH, Cravatt BF. TorsinA and its torsion dystoniaassociated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J Biol Chem 2000; 275:27933-27939.
    • (2000) J Biol Chem , vol.275 , pp. 27933-27939
    • Kustedjo, K.1    Bracey, M.H.2    Cravatt, B.F.3
  • 50
    • 1642290757 scopus 로고    scopus 로고
    • Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
    • Gonzalez-Alegre P, Paulson HL. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 2004; 24:2593-2601.
    • (2004) J Neurosci , vol.24 , pp. 2593-2601
    • Gonzalez-Alegre, P.1    Paulson, H.L.2
  • 53
    • 1642433201 scopus 로고    scopus 로고
    • Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
    • (Epub 2004 Jan 7)
    • Goodchild RE, Dauer WT. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA 2004; 101:847-852 (Epub 2004 Jan 7).
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 847-852
    • Goodchild, R.E.1    Dauer, W.T.2
  • 56
    • 84888890118 scopus 로고    scopus 로고
    • Neuropathology in DYT1/torsinA-linked dystonia
    • Olanow C, McNaught K. Neuropathology in DYT1/torsinA-linked dystonia. Mov Disord 2004; 19(suppl 9):S112.
    • (2004) Mov Disord , vol.19 , pp. S112
    • Olanow, C.1    McNaught, K.2
  • 57
  • 60
    • 0142103752 scopus 로고    scopus 로고
    • Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12
    • Ozelius LJ. Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12. Adv Neurol 2004; 94:109-112.
    • (2004) Adv Neurol , vol.94 , pp. 109-112
    • Ozelius, L.J.1
  • 62
    • 0029798561 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
    • Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996; 5:1673-1677.
    • (1996) Hum Mol Genet , vol.5 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 63
    • 0030875011 scopus 로고    scopus 로고
    • Sporadic focal dystonia in northwest Germany: Molecular basis on chromosome 18p
    • Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G. Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. Ann Neurol 1997; 42:111-114.
    • (1997) Ann Neurol , vol.42 , pp. 111-114
    • Leube, B.1    Hendgen, T.2    Kessler, K.R.3    Knapp, M.4    Benecke, R.5    Auburger, G.6
  • 64
    • 0030770713 scopus 로고    scopus 로고
    • Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe
    • Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. Am J Med Genet 1997; 74:529-532.
    • (1997) Am J Med Genet , vol.74 , pp. 529-532
    • Leube, B.1    Hendgen, T.2    Kessler, K.R.3    Knapp, M.4    Benecke, R.5    Auburger, G.6
  • 66
    • 0031736998 scopus 로고    scopus 로고
    • Questionable role of adult-onset focal dystonia among sporadic dystonia patients
    • Leube B, Auburger G. Questionable role of adult-onset focal dystonia among sporadic dystonia patients. Ann Neurol 1998; 44:984-985.
    • (1998) Ann Neurol , vol.44 , pp. 984-985
    • Leube, B.1    Auburger, G.2
  • 70
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard TG. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993; 60:577-585.
    • (1993) Adv Neurol , vol.60 , pp. 577-585
    • Nygaard, T.G.1
  • 71
    • 0042868558 scopus 로고    scopus 로고
    • Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
    • Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003; 54(suppl 6):S32-45.
    • (2003) Ann Neurol , vol.54 , pp. S32-S45
    • Segawa, M.1    Nomura, Y.2    Nishiyama, N.3
  • 72
    • 0002977292 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, ed. New York, NY: Parthenon Publishing
    • Segawa M, Nomura Y. Hereditary progressive dystonia with marked diurnal fluctuation. In: Segawa M, ed. Hereditary Progressive Dystonia With Marked Diurnal Fluctuation. New York, NY: Parthenon Publishing, 1993; 3:3-19.
    • (1993) Hereditary Progressive Dystonia With Marked Diurnal Fluctuation , vol.3 , pp. 3-19
    • Segawa, M.1    Nomura, Y.2
  • 73
    • 0031958577 scopus 로고    scopus 로고
    • High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
    • Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Muller U. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 1998; 43:634-639.
    • (1998) Ann Neurol , vol.43 , pp. 634-639
    • Steinberger, D.1    Weber, Y.2    Korinthenberg, R.3    Deuschl, G.4    Benecke, R.5    Martinius, J.6    Muller, U.7
  • 75
    • 0030587511 scopus 로고    scopus 로고
    • The GTPcyclohydrolase I gene in atypical parkinsonian patients: A clinico-genetic study
    • Bandmann O, Daniel S, Marsden CD, Wood NW, Harding AE. The GTPcyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study. J Neurol Sci 1996; 141:27-32.
    • (1996) J Neurol Sci , vol.141 , pp. 27-32
    • Bandmann, O.1    Daniel, S.2    Marsden, C.D.3    Wood, N.W.4    Harding, A.E.5
  • 76
    • 0030059804 scopus 로고    scopus 로고
    • Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
    • Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996; 5:403-406.
    • (1996) Hum Mol Genet , vol.5 , pp. 403-406
    • Bandmann, O.1    Nygaard, T.G.2    Surtees, R.3    Marsden, C.D.4    Wood, N.W.5    Harding, A.E.6
  • 78
    • 0031613968 scopus 로고    scopus 로고
    • Atypical presentations of doparesponsive dystonia
    • Bandmann O, Marsden CD, Wood NW. Atypical presentations of doparesponsive dystonia. Adv Neurol 1998; 78:283-290.
    • (1998) Adv Neurol , vol.78 , pp. 283-290
    • Bandmann, O.1    Marsden, C.D.2    Wood, N.W.3
  • 79
    • 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; 14:215-233.
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 81
    • 0026021079 scopus 로고
    • Dopa-responsive dystonia: Long-term treatment response and prognosis
    • Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991; 41:174-181.
    • (1991) Neurology , vol.41 , pp. 174-181
    • Nygaard, T.G.1    Marsden, C.D.2    Fahn, S.3
  • 82
    • 0032731974 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: Recent advance’s and remaining issues to be addressed
    • Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advance’s and remaining issues to be addressed. Mov Disord 1999; 14:709-715.
    • (1999) Mov Disord , vol.14 , pp. 709-715
    • Furukawa, Y.1    Kish, S.J.2
  • 83
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994; 8:236-242.
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2
  • 84
    • 0031608977 scopus 로고    scopus 로고
    • Dopa-responsive dystonia: A syndrome of selective nigrostriatal dopamine deficiency
    • Jeon BS, Jeong JM, Park SS, Lee MC. Dopa-responsive dystonia: a syndrome of selective nigrostriatal dopamine deficiency. Adv Neurol 1998; 78:309-317.
    • (1998) Adv Neurol , vol.78 , pp. 309-317
    • Jeon, B.S.1    Jeong, J.M.2    Park, S.S.3    Lee, M.C.4
  • 85
    • 0031609751 scopus 로고    scopus 로고
    • Defects of biopterin metabolism and biogenic amine biosynthesis: Clinical diagnostic, and therapeutic aspects
    • Hyland K, Arnold LA, Trugman JM. Defects of biopterin metabolism and biogenic amine biosynthesis: clinical diagnostic, and therapeutic aspects. Adv Neurol 1998; 78:301-308.
    • (1998) Adv Neurol , vol.78 , pp. 301-308
    • Hyland, K.1    Arnold, L.A.2    Trugman, J.M.3
  • 86
    • 0035099949 scopus 로고    scopus 로고
    • Diagnosis of doparesponsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    • Bonafe L, Thony B, Leimbacher W, Kierat L, Blau N. Diagnosis of doparesponsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 2001; 47:477-485.
    • (2001) Clin Chem , vol.47 , pp. 477-485
    • Bonafe, L.1    Thony, B.2    Leimbacher, W.3    Kierat, L.4    Blau, N.5
  • 87
    • 0032847339 scopus 로고    scopus 로고
    • Doparesponsive dystonia induced by a recessive GTP cyclohydrolase I mutation
    • Hwu WL, Wang PJ, Hsiao KJ, Wang TR, Chiou YW, Lee YM. Doparesponsive dystonia induced by a recessive GTP cyclohydrolase I mutation. Hum Genet 1999; 105:226-230.
    • (1999) Hum Genet , vol.105 , pp. 226-230
    • Hwu, W.L.1    Wang, P.J.2    Hsiao, K.J.3    Wang, T.R.4    Chiou, Y.W.5    Lee, Y.M.6
  • 89
    • 77956754547 scopus 로고    scopus 로고
    • Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia
    • Bartholome K, Ludecke B. Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa-responsive dystonia. Adv Pharmacol 1998; 42:48-49.
    • (1998) Adv Pharmacol , vol.42 , pp. 48-49
    • Bartholome, K.1    Ludecke, B.2
  • 90
    • 0028816765 scopus 로고
    • A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome
    • Ludecke B, Dworniczak B, Bartholome K. A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome. Hum Genet 1995; 95:123-125.
    • (1995) Hum Genet , vol.95 , pp. 123-125
    • Ludecke, B.1    Dworniczak, B.2    Bartholome, K.3
  • 94
    • 0031927867 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings
    • AbelingNG, vanGennipAH, BarthPG, vanCruchtenA, WestraM, WijburgFA. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis 1998; 21: 240-242.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 240-242
    • Abeling, N.G.1    vanGennip, A.H.2    Barth, P.G.3    vanCruchten, A.4    Westra, M.5    Wijburg, F.A.6
  • 95
    • 0025027824 scopus 로고
    • Aromatic amino acid decarboxylase deficiency in twins
    • Hyland K, Clayton PT. Aromatic amino acid decarboxylase deficiency in twins. J Inherit Metab Dis 1990; 13:301-304.
    • (1990) J Inherit Metab Dis , vol.13 , pp. 301-304
    • Hyland, K.1    Clayton, P.T.2
  • 96
    • 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 RA, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992; 42:1980-1988.
    • (1992) Neurology , vol.42 , pp. 1980-1988
    • Hyland, K.1    Surtees, R.A.2    Rodeck, C.3    Clayton, P.T.4
  • 97
    • 0031290382 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: An extrapyramidal movement disorder with oculogyric crises
    • Korenke GC, Christen HJ, Hyland K, Hunneman DH, Hanefeld F. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. Eur J Paediatr Neurol 1997; 1:67-71.
    • (1997) Eur J Paediatr Neurol , vol.1 , pp. 67-71
    • Korenke, G.C.1    Christen, H.J.2    Hyland, K.3    Hunneman, D.H.4    Hanefeld, F.5
  • 98
    • 0030961201 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a second family
    • Maller A, Hyland K, Milstien S, Biaggioni I, Butler IJ. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. J Child Neurol 1997; 12:349-354.
    • (1997) J Child Neurol , vol.12 , pp. 349-354
    • Maller, A.1    Hyland, K.2    Milstien, S.3    Biaggioni, I.4    Butler, I.J.5
  • 100
    • 0042868556 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: Overview of clinical features and outcomes
    • Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol 2003; 54(suppl 6):S49-55.
    • (2003) Ann Neurol , vol.54 , pp. S49-S55
    • Swoboda, K.J.1    Saul, J.P.2    McKenna, C.E.3    Speller, N.B.4    Hyland, K.5
  • 103
    • 0031604087 scopus 로고    scopus 로고
    • Inherited myoclonus-dystonia syndrome
    • Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998; 78: 325-334.
    • (1998) Adv Neurol , vol.78 , pp. 325-334
    • Gasser, T.1
  • 105
    • 0023763764 scopus 로고
    • Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
    • Quinn NP, Rothwell JC, Thompson PD, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988; 50:391-401.
    • (1988) Adv Neurol , vol.50 , pp. 391-401
    • Quinn, N.P.1    Rothwell, J.C.2    Thompson, P.D.3    Marsden, C.D.4
  • 106
    • 0029882099 scopus 로고    scopus 로고
    • Essential myoclonus and myoclonic dystonia
    • Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996; 11:119-124.
    • (1996) Mov Disord , vol.11 , pp. 119-124
    • Quinn, N.P.1
  • 109
    • 0031722943 scopus 로고    scopus 로고
    • The sarcoglycan complex in limb-girdle muscular dystrophy
    • Lim LE, Campbell KP. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr Opin Neurol 1998; 11:443-452.
    • (1998) Curr Opin Neurol , vol.11 , pp. 443-452
    • Lim, L.E.1    Campbell, K.P.2
  • 110
    • 0142103754 scopus 로고    scopus 로고
    • Inherited myoclonus-dystonia
    • Asmus F, Gasser T. Inherited myoclonus-dystonia. Adv Neurol 2004; 94: 113-119.
    • (2004) Adv Neurol , vol.94 , pp. 113-119
    • Asmus, F.1    Gasser, T.2
  • 114
    • 0035241272 scopus 로고    scopus 로고
    • Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity
    • DA, Bulman D, George-Hyslop PS, Lang AE. Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. Mov Disord 2001; 16:106-110.
    • (2001) Mov Disord , vol.16 , pp. 106-110
    • Bulman, D.1    George-Hyslop, P.S.2    Lang, A.E.3
  • 117
    • 0031780914 scopus 로고    scopus 로고
    • Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism
    • Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Ann Neurol 1998; 43:521-526.
    • (1998) Ann Neurol , vol.43 , pp. 521-526
    • Brashear, A.1    Butler, I.J.2    Hyland, K.3    Farlow, M.R.4    Dobyns, W.B.5
  • 123
    • 0001504349 scopus 로고
    • Paroxysmal Dyskinsias
    • Marsden CD, Fahn S, eds. Oxford: Butterworth-Heineman
    • Fahn S. Paroxysmal Dyskinsias. In: Marsden CD, Fahn S, eds. Movement Disorders 3. Oxford: Butterworth-Heineman, 1994:310-345.
    • (1994) Movement Disorders 3 , pp. 310-345
    • Fahn, S.1
  • 124
    • 0032941645 scopus 로고    scopus 로고
    • The paroxysmal dyskinesias
    • Bhatia KP. The paroxysmal dyskinesias. J Neurol 1999; 246:149-155.
    • (1999) J Neurol , vol.246 , pp. 149-155
    • Bhatia, K.P.1
  • 126
    • 0000738544 scopus 로고
    • Familial paroxysmal choreoathetosis: Preliminary report on an hitherto undescribed clinical syndrome
    • Mount L, Reback S. Familial paroxysmal choreoathetosis: preliminary report on an hitherto undescribed clinical syndrome. Archives of Neurology and Psychiatry 1940; 44:841-847.
    • (1940) Archives of Neurology and Psychiatry , vol.44 , pp. 841-847
    • Mount, L.1    Reback, S.2
  • 127
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: Clinical features and classification
    • DemirkiranM, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38:571-579.
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 130
    • 0031457049 scopus 로고    scopus 로고
    • Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family
    • Jarman PR, Davis MB, Hodgson SV, Marsden CD, Wood NW. Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. Brain 1997; 120:2125-2130.
    • (1997) Brain , vol.120 , pp. 2125-2130
    • Jarman, P.R.1    Davis, M.B.2    Hodgson, S.V.3    Marsden, C.D.4    Wood, N.W.5
  • 131
    • 0031948567 scopus 로고    scopus 로고
    • Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34
    • Raskind WH, Bolin T, Wolff J, Fink J, Matsushita M, Lift M, Lipe H, Bird TD. Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Hum Genet 1998; 102:93-97.
    • (1998) Hum Genet , vol.102 , pp. 93-97
    • Raskind, W.H.1    Bolin, T.2    Wolff, J.3    Fink, J.4    Matsushita, M.5    Lift, M.6    Lipe, H.7    Bird, T.D.8
  • 132
    • 0034804028 scopus 로고    scopus 로고
    • Acid-sensing ion channel (ASIC) 4 gene: Physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia
    • Grunder S, Geisler HS, Rainier S, Fink JK. Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. Eur J Hum Genet 2001; 9:672-676.
    • (2001) Eur J Hum Genet , vol.9 , pp. 672-676
    • Grunder, S.1    Geisler, H.S.2    Rainier, S.3    Fink, J.K.4
  • 133
    • 0030027095 scopus 로고    scopus 로고
    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
    • Auburger G, Ratzlaff T, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996; 31:90-94.
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2
  • 134
    • 0014109480 scopus 로고
    • Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied
    • Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967; 17:680-690.
    • (1967) Neurology , vol.17 , pp. 680-690
    • Kertesz, A.1
  • 136
    • 0033055535 scopus 로고    scopus 로고
    • Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer’s cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    • Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer’s cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999; 45:344-352.
    • (1999) Ann Neurol , vol.45 , pp. 344-352
    • Guerrini, R.1    Bonanni, P.2    Nardocci, N.3    Parmeggiani, L.4    Piccirilli, M.5    De Fusco, M.6    Aridon, P.7    Ballabio, A.8    Carrozzo, R.9    Casari, G.10
  • 138
    • 0036212214 scopus 로고    scopus 로고
    • The genetics of primary dystonias and related disorders
    • Nemeth AH. The genetics of primary dystonias and related disorders. Brain 2002; 125:695-721.
    • (2002) Brain , vol.125 , pp. 695-721
    • Nemeth, A.H.1
  • 139
    • 0038147396 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesias
    • Lotze T, Jankovic J. Paroxysmal kinesigenic dyskinesias. Semin Pediatr Neurol 2003; 10:68-79.
    • (2003) Semin Pediatr Neurol , vol.10 , pp. 68-79
    • Lotze, T.1    Jankovic, J.2
  • 141
    • 0026068325 scopus 로고
    • A case-control study of idiopathic torsion dystonia
    • Fletcher NA, Harding AE, Marsden CD. A case-control study of idiopathic torsion dystonia. Mov Disord 1991; 6:304-309.
    • (1991) Mov Disord , vol.6 , pp. 304-309
    • Fletcher, N.A.1    Harding, A.E.2    Marsden, C.D.3
  • 142
    • 0036654196 scopus 로고    scopus 로고
    • Cervical dystonia in twins
    • Factor SA. Cervical dystonia in twins. Mov Disord 2002; 17:846-847.
    • (2002) Mov Disord , vol.17 , pp. 846-847
    • Factor, S.A.1
  • 143
    • 0035412913 scopus 로고    scopus 로고
    • Cervical dystonia in monozygotic twins: Case report and review of the literature
    • Wunderlich S, Reiners K, Gasser T, Naumann M. Cervical dystonia in monozygotic twins: case report and review of the literature. Mov Disord 2001; 16:714-718.
    • (2001) Mov Disord , vol.16 , pp. 714-718
    • Wunderlich, S.1    Reiners, K.2    Gasser, T.3    Naumann, M.4
  • 144
    • 0142135444 scopus 로고    scopus 로고
    • Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene
    • Misbahuddin A, Placzek MR, Warner TT. Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene. Adv Neurol 2004; 94: 143-146.
    • (2004) Adv Neurol , vol.94 , pp. 143-146
    • Misbahuddin, A.1    Placzek, M.R.2    Warner, T.T.3


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