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Volumn 6, Issue 1, 1999, Pages 1-8

Dystonia: Recent advances

Author keywords

Molecular genetics; Primary torsion dystonia; Secondary dystonia

Indexed keywords


EID: 0001769688     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0967-5868(99)90593-3     Document Type: Review
Times cited : (3)

References (103)
  • 1
    • 0001473859 scopus 로고
    • Über eine eigenartige Krampfkrankeheit des kinlichen Alters (Dysbasia lordotica progressiva, Dystonia musculoram deformans)
    • Oppenheim H. Über eine eigenartige Krampfkrankeheit des kinlichen Alters (Dysbasia lordotica progressiva, Dystonia musculoram deformans). Neurol Centrabl 1911; 30: 1090-1107.
    • (1911) Neurol Centrabl , vol.30 , pp. 1090-1107
    • Oppenheim, H.1
  • 2
    • 0016906737 scopus 로고
    • Dystonia: An overview
    • Zeman W. Dystonia: an overview. Adv Neurol 1976; 14: 91-103.
    • (1976) Adv Neurol , vol.14 , pp. 91-103
    • Zeman, W.1
  • 3
    • 0000613043 scopus 로고
    • Classification and investigation of dystonia
    • Marsden CD, Fahn S, Eds: London: Butterworths
    • Fahn S, Marsden CD. Calne DB. Classification and investigation of dystonia. In: Marsden CD, Fahn S, Eds: Movement Disorders 2. London: Butterworths, 1987: 332-358.
    • (1987) Movement Disorders 2 , pp. 332-358
    • Fahn, S.1    Marsden, C.D.2    Calne, D.B.3
  • 4
    • 0018836755 scopus 로고
    • Physiologic and pathologic tremors. Diagnosis, mechanism and management
    • Jankovic J, Fahn S. Physiologic and pathologic tremors. Diagnosis, mechanism and management. Ann Int Med 1980; 93: 460-465.
    • (1980) Ann Int Med , vol.93 , pp. 460-465
    • Jankovic, J.1    Fahn, S.2
  • 5
    • 0015059487 scopus 로고
    • Dystonia musculorum deformans: Analysis with electromyography
    • Yanagisawa N, Goto A. Dystonia musculorum deformans: Analysis with electromyography. J Neurol Sci 1971; 13: 39-65.
    • (1971) J Neurol Sci , vol.13 , pp. 39-65
    • Yanagisawa, N.1    Goto, A.2
  • 6
    • 0028298499 scopus 로고
    • The relationship of essential tremor to other movement disorders: Report on 678 patients
    • Koller WC, Busenbark K, Miner K, the Essential Tremor study group. The relationship of essential tremor to other movement disorders: report on 678 patients. Ann Neurol 1994; 35: 717-723.
    • (1994) Ann Neurol , vol.35 , pp. 717-723
    • Koller, W.C.1    Busenbark, K.2    Miner, K.3
  • 7
    • 0025979346 scopus 로고
    • Essential tremor: Clinical correlates in 350 patients
    • Lou JS, Jankovic J. Essential tremor: clinical correlates in 350 patients. Neurology 1991; 41: 234-238.
    • (1991) Neurology , vol.41 , pp. 234-238
    • Lou, J.S.1    Jankovic, J.2
  • 8
    • 0027185835 scopus 로고
    • Linkage analysis with chromosome 9 markers in hereditary essential tremor
    • Conway D, Bain PG, Warner TT et al. Linkage analysis with chromosome 9 markers in hereditary essential tremor. Mov Disord 1993; 8: 374-376.
    • (1993) Mov Disord , vol.8 , pp. 374-376
    • Conway, D.1    Bain, P.G.2    Warner, T.T.3
  • 9
    • 16944361915 scopus 로고    scopus 로고
    • Mapping of a familial essential tremor gene, FET1 to chromosome 3q13
    • Gulcher JR, Jonsson P, Kong A et al. Mapping of a familial essential tremor gene, FET1 to chromosome 3q13. Nature Genet 1997; 17: 84-87.
    • (1997) Nature Genet , vol.17 , pp. 84-87
    • Gulcher, J.R.1    Jonsson, P.2    Kong, A.3
  • 11
    • 0024474833 scopus 로고
    • Clincal variants of idiopathic torsion dystonia
    • Fahn S. Clincal variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry 1989; Supplement: 96-100.
    • (1989) J Neurol Neurosurg Psychiatry , Issue.SUPPL. , pp. 96-100
    • Fahn, S.1
  • 12
    • 0028950638 scopus 로고
    • Spread of symptoms in idiopathic torsion dystonia
    • Green P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord 1995; 10: 143-152.
    • (1995) Mov Disord , vol.10 , pp. 143-152
    • Green, P.1    Kang, U.J.2    Fahn, S.3
  • 13
    • 0022992158 scopus 로고
    • Generalised dystonia: Concept and treatment
    • Fahn S. Generalised dystonia: concept and treatment. Clin Neuropharmacol 1986; 9 (Suppl 2): S37-S48.
    • (1986) Clin Neuropharmacol , vol.9 , Issue.2 SUPPL.
    • Fahn, S.1
  • 14
    • 0014872391 scopus 로고
    • Pathology of the torsion dystonias (dystonia muscluorum deformans)
    • Zeman W. Pathology of the torsion dystonias (dystonia muscluorum deformans). Neurology 1970; 20: 79-88.
    • (1970) Neurology , vol.20 , pp. 79-88
    • Zeman, W.1
  • 16
    • 0021826543 scopus 로고
    • The anatomical basis of symptomatic hemidystonia
    • Marsden CD. Obeso JA. Zarranz JJ, Lang AE. The anatomical basis of symptomatic hemidystonia. Brain 1985; 108: 463-483.
    • (1985) Brain , vol.108 , pp. 463-483
    • Marsden, C.D.1    Obeso, J.A.2    Zarranz, J.J.3    Lang, A.E.4
  • 17
    • 0029932039 scopus 로고    scopus 로고
    • Striatopallidal and thalamic dystonia: A magnetic resonance imaging anatomoclinical study
    • Lehericy S, Vidailhet M, Dormont D et al. Striatopallidal and thalamic dystonia: a magnetic resonance imaging anatomoclinical study. Arch Neurol 1996; 53: 241-250.
    • (1996) Arch Neurol , vol.53 , pp. 241-250
    • Lehericy, S.1    Vidailhet, M.2    Dormont, D.3
  • 18
    • 0020552977 scopus 로고
    • Blepharospasm associated with brainstem lesions
    • Jankovic J, Patel SC. Blepharospasm associated with brainstem lesions. Neurology 1983; 33: 1237-1240.
    • (1983) Neurology , vol.33 , pp. 1237-1240
    • Jankovic, J.1    Patel, S.C.2
  • 19
    • 0028182911 scopus 로고
    • Prolonged MRIT2 times of the lentiform nucleus in idiopathic spasmodic torticollis
    • Schneider S, Feifel E, Ott D, Schumacher M, Lucking CH, Deuschl G. Prolonged MRIT2 times of the lentiform nucleus in idiopathic spasmodic torticollis. Neurology 1994; 44: 846-850.
    • (1994) Neurology , vol.44 , pp. 846-850
    • Schneider, S.1    Feifel, E.2    Ott, D.3    Schumacher, M.4    Lucking, C.H.5    Deuschl, G.6
  • 20
    • 0029952851 scopus 로고    scopus 로고
    • Lenticular nucleus lesion in idiopathic dystonia detected by transcranial sonography
    • Naumann M, Becker G, Toyka KV, Supprian T, Reiners K. Lenticular nucleus lesion in idiopathic dystonia detected by transcranial sonography. Neurology 1996; 47: 1284-1290.
    • (1996) Neurology , vol.47 , pp. 1284-1290
    • Naumann, M.1    Becker, G.2    Toyka, K.V.3    Supprian, T.4    Reiners, K.5
  • 21
    • 0029572439 scopus 로고
    • The metabolic topography of idiopathic torsion dystonia
    • Eidelberg D, Moeller JR, Ishikawa T et al. The metabolic topography of idiopathic torsion dystonia. Brain 1995; 118: 1473-1484.
    • (1995) Brain , vol.118 , pp. 1473-1484
    • Eidelberg, D.1    Moeller, J.R.2    Ishikawa, T.3
  • 25
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, De Leon D, Ozelius L et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9: 152-159.
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.3
  • 26
    • 0027988344 scopus 로고
    • Dystonia in Ashkenazi Jews: Clinical characterisation of a founder mutation
    • Bressman SB, De Leon D, Kramer PL et al. Dystonia in Ashkenazi Jews: clinical characterisation of a founder mutation. Ann Neurol 1994; 36: 771-777.
    • (1994) Ann Neurol , vol.36 , pp. 771-777
    • Bressman, S.B.1    De Leon, D.2    Kramer, P.L.3
  • 27
    • 0026581762 scopus 로고
    • Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews
    • Ozelius LJ, Kramer PL, de Leon D 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    De Leon, D.3
  • 28
    • 10644264534 scopus 로고
    • Genetic counselling for idiopathic torsion dystonia: First use of DNA based carrier detection in Ashkenazic Jews
    • De Leon D, Brin MF, Murphy P et al. Genetic counselling for idiopathic torsion dystonia: first use of DNA based carrier detection in Ashkenazic Jews. Mov Disord 1991; 6: 273-274.
    • (1991) Mov Disord , vol.6 , pp. 273-274
    • De Leon, D.1    Brin, M.F.2    Murphy, P.3
  • 29
    • 0016348009 scopus 로고
    • Idiopathic torsion dystonia: A review of 42 patients
    • Marsden CD, Harrison MJG. Idiopathic torsion dystonia: a review of 42 patients. Brain 1974; 97: 793-810.
    • (1974) Brain , vol.97 , pp. 793-810
    • Marsden, C.D.1    Harrison, M.J.G.2
  • 30
    • 0021476278 scopus 로고
    • The varied clinical expressions of dystonia
    • Fahn S. The varied clinical expressions of dystonia. Neurol Clin 1984; 2: 541-554.
    • (1984) Neurol Clin , vol.2 , pp. 541-554
    • Fahn, S.1
  • 31
    • 0022932317 scopus 로고
    • Analysis of the clinical course of non-Jewish autosomal dominant torsion dystonia
    • Burke RE, Brin MF, Fahn S, Bressman SB, Moskowitz C. Analysis of the clinical course of non-Jewish autosomal dominant torsion dystonia. Mov Disord 1986: 1: 163-178.
    • (1986) Mov Disord , vol.1 , pp. 163-178
    • Burke, R.E.1    Brin, M.F.2    Fahn, S.3    Bressman, S.B.4    Moskowitz, C.5
  • 32
    • 0025240674 scopus 로고
    • A genetic study of idiopathic torsion dystonia in the UK
    • Fletcher NA, Harding AE, Marsden CD. A genetic study of idiopathic torsion dystonia in the UK. Brain 1990; 113: 375-395.
    • (1990) Brain , vol.113 , pp. 375-395
    • Fletcher, N.A.1    Harding, A.E.2    Marsden, C.D.3
  • 33
    • 0024657745 scopus 로고
    • Human gene for torsion dystonia located on chromosome 9q32-34
    • Ozelius L, Kramer PL, Moskowitz CB et al. Human gene for torsion dystonia located on chromosome 9q32-34. Neuron 1989; 2: 1427-1434.
    • (1989) Neuron , vol.2 , pp. 1427-1434
    • Ozelius, L.1    Kramer, P.L.2    Moskowitz, C.B.3
  • 34
    • 0025238901 scopus 로고
    • Dystonia gene in Ashkenazi Jewish population located on chromosome 9q32-34
    • Kramer PL, Ozelius L, De Leon D et al. Dystonia gene in Ashkenazi Jewish population located on chromosome 9q32-34. Ann Neurol 1990; 27: 114-120.
    • (1990) Ann Neurol , vol.27 , pp. 114-120
    • Kramer, P.L.1    Ozelius, L.2    De Leon, D.3
  • 35
    • 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, Gasser T 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    Gasser, T.3
  • 36
    • 0024457283 scopus 로고
    • Idiopathic torsion dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman SB, De Leon D, Brin MF et al. Idiopathic torsion dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989; 26: 612-620.
    • (1989) Ann Neurol , vol.26 , pp. 612-620
    • Bressman, S.B.1    De Leon, D.2    Brin, M.F.3
  • 37
    • 0025349857 scopus 로고
    • Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
    • Risch N, De Leon D, Bressman et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990; 46: 533-438.
    • (1990) Am J Hum Genet , vol.46 , pp. 533-1438
    • Risch, N.1    De Leon, D.2    Bressman3
  • 38
    • 10644240964 scopus 로고
    • Dystonia musculorum deformans: Evidence for two hereditary forms
    • Barbeau A, Brunette JN (eds). Amsterdam: Excerpta Medica
    • Elridge T, Ryan E, Brody J, Cooper I. Dystonia musculorum deformans: evidence for two hereditary forms. In: Barbeau A, Brunette JN (eds). Prog Neurogenet. Amsterdam: Excerpta Medica, 1969: 772-788.
    • (1969) Prog Neurogenet , pp. 772-788
    • Elridge, T.1    Ryan, E.2    Brody, J.3    Cooper, I.4
  • 39
    • 0025339060 scopus 로고
    • Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance
    • Pauls DL, Korczyn AD. Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance. Neurology 1990; 40: 1107-1110.
    • (1990) Neurology , vol.40 , pp. 1107-1110
    • Pauls, D.L.1    Korczyn, A.D.2
  • 40
    • 0016916405 scopus 로고
    • Dystonia in Spain: Study of a Gypsy family and general survey
    • Gimenez-Roldan S, Lopez-Fraile IP, Esteban A. Dystonia in Spain: study of a Gypsy family and general survey. Adv Neurol 1976 14: 125-136.
    • (1976) Adv Neurol , vol.14 , pp. 125-136
    • Gimenez-Roldan, S.1    Lopez-Fraile, I.P.2    Esteban, A.3
  • 41
    • 0028344689 scopus 로고
    • A study of idiopathic torsion dystonia in a non-Jewish family: Evidence for genetic heterogeneity
    • Bressman SB, Heiman GA, Nygaard TG et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994; 44: 283-287.
    • (1994) Neurology , vol.44 , pp. 283-287
    • Bressman, S.B.1    Heiman, G.A.2    Nygaard, T.G.3
  • 42
    • 0028097164 scopus 로고
    • Exclusion of the DYT1 locus in a non-Jewish family with early onset-onset dystonia
    • Bressman SB, Hunt AL, Heiman GA et al. Exclusion of the DYT1 locus in a non-Jewish family with early onset-onset dystonia. Mov Disord 1994; 9: 626-632.
    • (1994) Mov Disord , vol.9 , pp. 626-632
    • Bressman, S.B.1    Hunt, A.L.2    Heiman, G.A.3
  • 43
    • 0029133628 scopus 로고
    • Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family
    • Holmgren G, Ozelius L, Forsgren L et al. Adult onset idiopathic torsion dystonia is excluded from the DYT1 region (9q34) in a Swedish family. J Neurol Neurosurg Psychiatry 1995; 59: 178-179.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 178-179
    • Holmgren, G.1    Ozelius, L.2    Forsgren, L.3
  • 44
    • 10244255192 scopus 로고    scopus 로고
    • Exclusion of the DYT1 locus in familial torticollis
    • Bressman SB, Warner TT, Almasy L et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996; 40: 681-684.
    • (1996) Ann Neurol , vol.40 , pp. 681-684
    • Bressman, S.B.1    Warner, T.T.2    Almasy, L.3
  • 45
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius LJ, Hewett JW, Page CE et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet 1997; 17: 40-48.
    • (1997) Nature Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 46
    • 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; 10: 1673-1677.
    • (1996) Hum Mol Genet , vol.10 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3    Kessler, K.R.4    Benecke, R.5    Auburger, G.6
  • 47
    • 0028029401 scopus 로고
    • 18p syndrome with bilateral pyramidal signs, dystonia of the lower extremities and concentric visual defects
    • Kakinuma S, Sasabe F, Negoro K, Nogaki H, Morimatsu M. 18p syndrome with bilateral pyramidal signs, dystonia of the lower extremities and concentric visual defects. Clin Neurol 1994; 34: 474-478.
    • (1994) Clin Neurol , vol.34 , pp. 474-478
    • Kakinuma, S.1    Sasabe, F.2    Negoro, K.3    Nogaki, H.4    Morimatsu, M.5
  • 49
    • 0027494629 scopus 로고
    • Adult-onset familial cervical dystonia: Report of a family including monozygotic twins
    • Uitti RJ, Maraganore DM. Adult-onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993; 8: 489-494.
    • (1993) Mov Disord , vol.8 , pp. 489-494
    • Uitti, R.J.1    Maraganore, D.M.2
  • 50
    • 50549150812 scopus 로고
    • A wry-necked family
    • Thompson JH. A wry-necked family. Lancet 1896; 2: 24.
    • (1896) Lancet , vol.2 , pp. 24
    • Thompson, J.H.1
  • 54
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
    • Almasy L, Bressman SB, Raymond D et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997; 42: 670-673.
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 56
    • 0022646260 scopus 로고
    • Spontaneous remission in spasmodic torticollis
    • Friedman A, Fahn S. Spontaneous remission in spasmodic torticollis. Neurology 1986; 36: 398-400.
    • (1986) Neurology , vol.36 , pp. 398-400
    • Friedman, A.1    Fahn, S.2
  • 57
    • 0025948398 scopus 로고
    • Cervical dystonia: Clinical findings and associated movement disorders
    • Jankovic J, Leder S, Warner D, Schwartz K. Cervical dystonia: clinical findings and associated movement disorders. Neurology 1991; 41: 1088-1091.
    • (1991) Neurology , vol.41 , pp. 1088-1091
    • Jankovic, J.1    Leder, S.2    Warner, D.3    Schwartz, K.4
  • 58
    • 0019495896 scopus 로고
    • Clinical features of Meige's disease: Idiopathic orofacial dystonia
    • Tolosa ES. Clinical features of Meige's disease: idiopathic orofacial dystonia. Arch Neurol 1981; 38: 147-152.
    • (1981) Arch Neurol , vol.38 , pp. 147-152
    • Tolosa, E.S.1
  • 59
    • 0001057794 scopus 로고
    • A survey of drug-induced extrapyramidal reactions
    • Ayd FJ. A survey of drug-induced extrapyramidal reactions. JAMA 1961; 175: 1054-1060.
    • (1961) JAMA , vol.175 , pp. 1054-1060
    • Ayd, F.J.1
  • 62
    • 0019252555 scopus 로고
    • The pathophysiology of exttapyramidal side-effects of neuroleptic drugs
    • Marsden CD, Jenner P. The pathophysiology of exttapyramidal side-effects of neuroleptic drugs. Psychol Med 1980; 10: 55-72.
    • (1980) Psychol Med , vol.10 , pp. 55-72
    • Marsden, C.D.1    Jenner, P.2
  • 64
    • 0029979067 scopus 로고    scopus 로고
    • Acute dystonia in a child associated with therapeutic ingestion of a dextromethorphan containing cough and cold syrup
    • Graudins A, Fern RP. Acute dystonia in a child associated with therapeutic ingestion of a dextromethorphan containing cough and cold syrup. J Toxicol-Clin Toxicol 1996; 34: 351-352.
    • (1996) J Toxicol-Clin Toxicol , vol.34 , pp. 351-352
    • Graudins, A.1    Fern, R.P.2
  • 66
    • 0025135165 scopus 로고
    • Prevalence of dystonia in veterans on chronic antipsychotic therapy
    • Sethi KD, Hess DC, Harp RJ. Prevalence of dystonia in veterans on chronic antipsychotic therapy. Mov Disord 1990; 5: 319-321.
    • (1990) Mov Disord , vol.5 , pp. 319-321
    • Sethi, K.D.1    Hess, D.C.2    Harp, R.J.3
  • 67
    • 0022932306 scopus 로고
    • Natural history and treatment of tardive dystonia
    • Kang UJ, Burke RE, Fahn S. Natural history and treatment of tardive dystonia. Mov Disord 1986; 1: 193-208.
    • (1986) Mov Disord , vol.1 , pp. 193-208
    • Kang, U.J.1    Burke, R.E.2    Fahn, S.3
  • 68
    • 0028069436 scopus 로고
    • Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
    • Kyllerman M, Skjeldal OH, Lundberg MA-H et al. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord 1994; 9: 22-30.
    • (1994) Mov Disord , vol.9 , pp. 22-30
    • Kyllerman, M.1    Skjeldal, O.H.2    Lundberg, M.A.-H.3
  • 69
    • 0029891215 scopus 로고    scopus 로고
    • Genetic heterogeneity in Leigh syndrome
    • Jul
    • DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996 Jul; 40: 5-7.
    • (1996) Ann Neurol , vol.40 , pp. 5-7
    • DiMauro, S.1    De Vivo, D.C.2
  • 70
    • 0026566850 scopus 로고
    • Heteroplasmic mtDNA mutation (T->G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch Y, Christodoulou J, Feigenbaum et al. Heteroplasmic mtDNA mutation (T->G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992; 50: 852-858.
    • (1992) Am J Hum Genet , vol.50 , pp. 852-858
    • Tatuch, Y.1    Christodoulou, J.2    Feigenbaum3
  • 72
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994; 91: 6206-6210.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 73
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber Hereditary Optic Atrophy and hereditary spastic dystonia
    • De Vries DD, Went LN, Bruyn GW et al. Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber Hereditary Optic Atrophy and hereditary spastic dystonia. Am J Hum Genet 1996; 58: 703-711.
    • (1996) Am J Hum Genet , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3
  • 74
    • 0029440732 scopus 로고
    • Delayed dystonia with striatal lucencies induced by a mycotoxin (3-nitroproprionic acid)
    • He FS, Zhang SL, Qian FY, Zhang CL. Delayed dystonia with striatal lucencies induced by a mycotoxin (3-nitroproprionic acid). Neurology 1995; 45: 2178-2183.
    • (1995) Neurology , vol.45 , pp. 2178-2183
    • He, F.S.1    Zhang, S.L.2    Qian, F.Y.3    Zhang, C.L.4
  • 77
    • 0029931408 scopus 로고    scopus 로고
    • Delayed -onset progressive movement disorders after static brain lesions
    • Scott BL, Jankovic J. Delayed -onset progressive movement disorders after static brain lesions. Neurology 1996; 46: 68-74.
    • (1996) Neurology , vol.46 , pp. 68-74
    • Scott, B.L.1    Jankovic, J.2
  • 78
    • 0026583508 scopus 로고
    • Movement disorders as sequelae of central pontine myelinolysis: Report of 3 cases
    • Maraganore DM, Folger WN, Swanson JW, Ahlskog JE. Movement disorders as sequelae of central pontine myelinolysis: report of 3 cases. Mov Disord 1992; 7: 142-148.
    • (1992) Mov Disord , vol.7 , pp. 142-148
    • Maraganore, D.M.1    Folger, W.N.2    Swanson, J.W.3    Ahlskog, J.E.4
  • 80
    • 0016905990 scopus 로고
    • Definition and classification of the dystonic states
    • Fahn S, Elridge R. Definition and classification of the dystonic states. Adv Neurol 1976; 14: 1-5.
    • (1976) Adv Neurol , vol.14 , pp. 1-5
    • Fahn, S.1    Elridge, R.2
  • 81
    • 0023675320 scopus 로고
    • Psychogenic dystonia
    • Fahn S, Williams DT. Psychogenic dystonia. Adv Neurol 1988; 50: 431-455.
    • (1988) Adv Neurol , vol.50 , pp. 431-455
    • Fahn, S.1    Williams, D.T.2
  • 82
    • 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
  • 83
    • 0026437419 scopus 로고
    • Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia
    • Nygaard TG, Takahashi H, Heiman GA, Snow BJ, Fahn S, Calne DB. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 1992; 32: 603-608.
    • (1992) Ann Neurol , vol.32 , pp. 603-608
    • Nygaard, T.G.1    Takahashi, H.2    Heiman, G.A.3    Snow, B.J.4    Fahn, S.5    Calne, D.B.6
  • 85
    • 0027377709 scopus 로고
    • Linkage mapping of doparesponsive dystonia (DRD) to chromosome 14q
    • Nygaard TG, Wilhelmsen KC, Risch NJ et al. Linkage mapping of doparesponsive dystonia (DRD) to chromosome 14q. Nature Genetics 1993; 5: 386-391.
    • (1993) Nature Genetics , vol.5 , pp. 386-391
    • Nygaard, T.G.1    Wilhelmsen, K.C.2    Risch, N.J.3
  • 86
    • 0028151448 scopus 로고    scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • 19948
    • Ichinose H, Ohye T, Takahashi E et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 19948: 236-242.
    • Nat Genet , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 87
    • 0029162075 scopus 로고
    • Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia
    • Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia. Biochem Biophys Res Comm 1995; 213: 645-651.
    • (1995) Biochem Biophys Res Comm , vol.213 , pp. 645-651
    • Hirano, M.1    Tamaru, Y.2    Nagai, Y.3    Ito, H.4    Imai, T.5    Ueno, S.6
  • 88
    • 0029829711 scopus 로고    scopus 로고
    • Mutant GTP cyclohydrolase I mRNA levels contribute to Dopa-responsive dystonia onset
    • Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S. Mutant GTP cyclohydrolase I mRNA levels contribute to Dopa-responsive dystonia onset. Ann Neurol 1996; 40: 796-798.
    • (1996) Ann Neurol , vol.40 , pp. 796-798
    • Hirano, M.1    Tamaru, Y.2    Ito, H.3    Matsumoto, S.4    Imai, T.5    Ueno, S.6
  • 89
    • 0028221755 scopus 로고
    • DOPA-responsive dystoniapathological and biochemical observations in a case
    • Rajput AH, Gibb WRG, Zhong XH et al. DOPA-responsive dystoniapathological and biochemical observations in a case. Ann Neurol 1994; 35: 396-402.
    • (1994) Ann Neurol , vol.35 , pp. 396-402
    • Rajput, A.H.1    Gibb, W.R.G.2    Zhong, X.H.3
  • 90
    • 0028816765 scopus 로고
    • A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
    • Ludecke B, Dworniczak B, Bartholomew 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    Bartholomew, K.3
  • 91
    • 0029049876 scopus 로고
    • Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog PM, Glatmark T, Mallet J, Ludecke B, Bartholomew K. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995; 4: 1209-1212.
    • (1995) Hum Mol Genet , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Glatmark, T.2    Mallet, J.3    Ludecke, B.4    Bartholomew, K.5
  • 92
    • 0030898773 scopus 로고    scopus 로고
    • Oral phenylalanine loading in doparesponsive dystonia: A possible diagnostic test
    • Hyland K, Fryburg JS, Wilson WG et al. Oral phenylalanine loading in doparesponsive dystonia: a possible diagnostic test. Neurology 1997; 48: 1290-1297.
    • (1997) Neurology , vol.48 , pp. 1290-1297
    • Hyland, K.1    Fryburg, J.S.2    Wilson, W.G.3
  • 94
    • 0023763764 scopus 로고
    • Hereditary myoclonic dystonia, hereditary torsion dystonia, essential myoclonus: An area of confusion
    • Quinn NP, Rothwell JC, Thompson PD, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia, essential myoclonus: an area of confusion. Adv Neural 1988; 50: 391-401.
    • (1988) Adv Neural , vol.50 , pp. 391-401
    • Quinn, N.P.1    Rothwell, J.C.2    Thompson, P.D.3    Marsden, C.D.4
  • 95
    • 0025740808 scopus 로고
    • Hereditary essential myoclonus in a large Norwegian family
    • Fahn S, Sjaastad O. Hereditary essential myoclonus in a large Norwegian family. Mov Disord 1991; 6: 237-247.
    • (1991) Mov Disord , vol.6 , pp. 237-247
    • Fahn, S.1    Sjaastad, O.2
  • 99
    • 0027182918 scopus 로고
    • Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women
    • Waters CH, Takahashi H, Wilhelmsen et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology 1993; 43 1555-1558.
    • (1993) Neurology , vol.43 , pp. 1555-1558
    • Waters, C.H.1    Takahashi, H.2    Wilhelmsen3
  • 100
    • 0029135425 scopus 로고
    • Assignment of the dystoniaparkinsonism syndrome locus, DYT3, to a small region within a 1.8 Mb YAC contig of Xq13.1
    • Haberhausen G, Schmitt I, Kohler A et al. Assignment of the dystoniaparkinsonism syndrome locus, DYT3, to a small region within a 1.8 Mb YAC contig of Xq13.1. Am J Hum Genet 1995; 57: 644-650.
    • (1995) Am J Hum Genet , vol.57 , pp. 644-650
    • Haberhausen, G.1    Schmitt, I.2    Kohler, A.3
  • 101
    • 0026071238 scopus 로고
    • Genetic mapping of "lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome
    • Wilhelmsen KC, Weeks DE, Nygaard TG et al. Genetic mapping of "lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. Ann Neurol 1991; 29: 124-131.
    • (1991) Ann Neurol , vol.29 , pp. 124-131
    • Wilhelmsen, K.C.1    Weeks, D.E.2    Nygaard, T.G.3
  • 102
    • 0027268724 scopus 로고
    • Neuropathology of Lubag (X-linked dystonia-parkinsonism)
    • Waters CH, Faust PL, Powers J, et al. Neuropathology of Lubag (X-linked dystonia-parkinsonism). Mov Disord 1993; 8: 387-390.
    • (1993) Mov Disord , vol.8 , pp. 387-390
    • Waters, C.H.1    Faust, P.L.2    Powers, J.3
  • 103
    • 0026771886 scopus 로고
    • Severe generalised dystonia with a mosaic pattern of striatal gliosis
    • Gibb WRG, Kilford L, Marsden CD. Severe generalised dystonia with a mosaic pattern of striatal gliosis. Mov Disord 1992; 7: 217-223.
    • (1992) Mov Disord , vol.7 , pp. 217-223
    • Gibb, W.R.G.1    Kilford, L.2    Marsden, C.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.