메뉴 건너뛰기




Volumn 17, Issue 4, 2008, Pages 219-227

Dystonia: A clinical approach

Author keywords

Diagnosis; Dystonia; Investigation; Primary; Treatment

Indexed keywords

BACLOFEN; BINDING PROTEIN; BOTULINUM TOXIN; CHOLINERGIC RECEPTOR BLOCKING AGENT; CLONAZEPAM; CLOZAPINE; DOPAMINE RECEPTOR BLOCKING AGENT; EPSILON SARCOGLYCAN; GABAPENTIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; PARKIN; PROTEIN DYT1; TETRABENAZINE; UNCLASSIFIED DRUG;

EID: 58149295424     PISSN: 10196099     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (3)

References (54)
  • 2
    • 0035040806 scopus 로고    scopus 로고
    • Familial (idiopathic) paroxysmal dyskinesias: An update
    • Bhatia KP. Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol 2001;21:69-74.
    • (2001) Semin Neurol , vol.21 , pp. 69-74
    • Bhatia, K.P.1
  • 4
    • 33646343179 scopus 로고    scopus 로고
    • Cortical and spinal abnormalities in psychogenic dystonia
    • Espay AJ, Morgante F, Purzner J, et al. Cortical and spinal abnormalities in psychogenic dystonia. Ann Neurol 2006; 59:825-34.
    • (2006) Ann Neurol , vol.59 , pp. 825-834
    • Espay, A.J.1    Morgante, F.2    Purzner, J.3
  • 5
    • 0023675320 scopus 로고
    • Psychogenic dystonia
    • Fahn S, Williams DT. Psychogenic dystonia. Adv Neurol 1988;50:431-55.
    • (1988) Adv Neurol , vol.50 , pp. 431-455
    • Fahn, S.1    Williams, D.T.2
  • 6
    • 36348960143 scopus 로고    scopus 로고
    • Paroxysmal dyskinesias
    • Mink JW. Paroxysmal dyskinesias. Curr Opin Pediatr 2007;19:652-6.
    • (2007) Curr Opin Pediatr , vol.19 , pp. 652-656
    • Mink, J.W.1
  • 7
    • 4944235067 scopus 로고    scopus 로고
    • The syndrome of fixed dystonia: An evaluation of 103 patients
    • Schrag A, Trimble M, Quinn N, et al. The syndrome of fixed dystonia: an evaluation of 103 patients. Brain 2004; 127:2360-72.
    • (2004) Brain , vol.127 , pp. 2360-2372
    • Schrag, A.1    Trimble, M.2    Quinn, N.3
  • 8
    • 23344446711 scopus 로고    scopus 로고
    • Psychogenic movement disorders
    • Schrag A, Lang AE. Psychogenic movement disorders. Curr Opin Neurol 2005;18:399-404.
    • (2005) Curr Opin Neurol , vol.18 , pp. 399-404
    • Schrag, A.1    Lang, A.E.2
  • 9
    • 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. Nat Genet 1997;17:40-8.
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 10
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-52.
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3
  • 11
    • 0037746661 scopus 로고    scopus 로고
    • Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
    • Edwards M, Wood N, Bhatia K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord 2003;18:706-11.
    • (2003) Mov Disord , vol.18 , pp. 706-711
    • Edwards, M.1    Wood, N.2    Bhatia, K.3
  • 12
    • 33846437442 scopus 로고    scopus 로고
    • Abnormalities in motor cortical plasticity differentiate manifesting and non-manifesting DYT1 carriers
    • Edwards MJ, Huang YZ, Mir P, et al. Abnormalities in motor cortical plasticity differentiate manifesting and non-manifesting DYT1 carriers. Mov Disord 2006;21:2181-6.
    • (2006) Mov Disord , vol.21 , pp. 2181-2186
    • Edwards, M.J.1    Huang, Y.Z.2    Mir, P.3
  • 13
    • 0027988344 scopus 로고
    • Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
    • Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-7.
    • (1994) Ann Neurol , vol.36 , pp. 771-777
    • Bressman, S.B.1    de Leon, D.2    Kramer, P.L.3
  • 14
    • 3242805938 scopus 로고    scopus 로고
    • Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: Long-term results
    • Coubes P, Cif L, El Fertit H, et al. Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg 2004;101: 189-94.
    • (2004) J Neurosurg , vol.101 , pp. 189-194
    • Coubes, P.1    Cif, L.2    El Fertit, H.3
  • 15
    • 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;42:670-3.
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 16
    • 1542330841 scopus 로고    scopus 로고
    • Phenotypic characterization of DYT13 primary torsion dystonia
    • Bentivoglio AR, Ialongo T, Contarino MF, et al. Phenotypic characterization of DYT13 primary torsion dystonia. Mov Disord 2004;19:200-6.
    • (2004) Mov Disord , vol.19 , pp. 200-206
    • Bentivoglio, A.R.1    Ialongo, T.2    Contarino, M.F.3
  • 17
    • 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, et al. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. Am J Med Genet 1997;74:529-32.
    • (1997) Am J Med Genet , vol.74 , pp. 529-532
    • Leube, B.1    Hendgen, T.2    Kessler, K.R.3
  • 18
    • 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;94:109-12.
    • (2004) Adv Neurol , vol.94 , pp. 109-112
    • Ozelius, L.J.1
  • 19
    • 18044400481 scopus 로고    scopus 로고
    • Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset
    • Valente EM, Bentivoglio AR, Cassetta E, et al. Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Neurol Sci 2001;22: 95-6.
    • (2001) Neurol Sci , vol.22 , pp. 95-96
    • Valente, E.M.1    Bentivoglio, A.R.2    Cassetta, E.3
  • 20
    • 34249064579 scopus 로고    scopus 로고
    • The entity of young onset primary cervical dystonia
    • Koukouni V, Martino D, Arabia G, et al. The entity of young onset primary cervical dystonia. Mov Disord 2007; 22:843-7.
    • (2007) Mov Disord , vol.22 , pp. 843-847
    • Koukouni, V.1    Martino, D.2    Arabia, G.3
  • 21
    • 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:S32-S45.
    • (2003) Ann Neurol , vol.54
    • Segawa, M.1    Nomura, Y.2    Nishiyama, N.3
  • 22
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • 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 1994;8:236-42.
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 23
    • 0031613968 scopus 로고    scopus 로고
    • Atypical presentations of dopa-responsive dystonia
    • Bandmann O, Marsden CD, Wood NW. Atypical presentations of dopa-responsive dystonia. Adv Neurol 1998;78: 283-90.
    • (1998) Adv Neurol , vol.78 , pp. 283-290
    • Bandmann, O.1    Marsden, C.D.2    Wood, N.W.3
  • 24
    • 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;41:174-81.
    • (1991) Neurology , vol.41 , pp. 174-181
    • Nygaard, T.G.1    Marsden, C.D.2    Fahn, S.3
  • 25
    • 0037465535 scopus 로고    scopus 로고
    • The phenylalanine loading test in the differential diagnosis of dystonia
    • Bandmann O, Goertz M, Zschocke J, et al. The phenylalanine loading test in the differential diagnosis of dystonia. Neurology 2003;60:700-2.
    • (2003) Neurology , vol.60 , pp. 700-702
    • Bandmann, O.1    Goertz, M.2    Zschocke, J.3
  • 26
    • 33745695582 scopus 로고    scopus 로고
    • Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
    • Abeling NG, Duran M, Bakker HD, et al. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 2006;89:116-20.
    • (2006) Mol Genet Metab , vol.89 , pp. 116-120
    • Abeling, N.G.1    Duran, M.2    Bakker, H.D.3
  • 27
    • 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;42:48-9.
    • (1998) Adv Pharmacol , vol.42 , pp. 48-49
    • Bartholome, K.1    Ludecke, B.2
  • 28
    • 0029882099 scopus 로고    scopus 로고
    • Essential myoclonus and myoclonic dystonia
    • Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996;11:119-24.
    • (1996) Mov Disord , vol.11 , pp. 119-124
    • Quinn, N.P.1
  • 29
    • 0023763764 scopus 로고
    • Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
    • Quinn NP, Rothwell JC, Thompson PD, et al. 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
  • 30
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-9.
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 31
    • 13844306505 scopus 로고    scopus 로고
    • The epsilon-sarcoglycan gene in myoclonic syndromes
    • Valente EM, Edwards MJ, Mir P, et al. The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology 2005; 64:737-9.
    • (2005) Neurology , vol.64 , pp. 737-739
    • Valente, E.M.1    Edwards, M.J.2    Mir, P.3
  • 32
    • 0036790909 scopus 로고    scopus 로고
    • Myoclonus-dystonia syndrome: Epsilon-sarcoglycan mutations and phenotype
    • Asmus F, Zimprich A, Tezenas Du Montecl S, et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 2002;52:489-92.
    • (2002) Ann Neurol , vol.52 , pp. 489-492
    • Asmus, F.1    Zimprich, A.2    Tezenas Du Montecl, S.3
  • 33
    • 0037301222 scopus 로고    scopus 로고
    • The epsilon-sarcoglycan gene (SGCE), mutated in myoclonusdystonia syndrome, is maternally imprinted
    • Grabowski M, Zimprich A, Lorenz-Depiereux B, et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonusdystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003;11:138-44.
    • (2003) Eur J Hum Genet , vol.11 , pp. 138-144
    • Grabowski, M.1    Zimprich, A.2    Lorenz-Depiereux, B.3
  • 34
    • 0036916437 scopus 로고    scopus 로고
    • Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
    • Müller B, Hedrich K, Kock N, et al. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-11.
    • (2002) Am J Hum Genet , vol.71 , pp. 1303-1311
    • Müller, B.1    Hedrich, K.2    Kock, N.3
  • 35
    • 33947131242 scopus 로고    scopus 로고
    • The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    • Brashear A, Dobyns WB, de Carvalho AP, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007;130:828-35.
    • (2007) Brain , vol.130 , pp. 828-835
    • Brashear, A.1    Dobyns, W.B.2    de Carvalho, A.P.3
  • 36
    • 3242700773 scopus 로고    scopus 로고
    • Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    • de Carvalho Aquiar P, Sweadner KJ, Penniston JT, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004;43:169-75.
    • (2004) Neuron , vol.43 , pp. 169-175
    • de Carvalho Aquiar, P.1    Sweadner, K.J.2    Penniston, J.T.3
  • 37
    • 0027978063 scopus 로고
    • The behavioural and motor consequences of focal lesions of the basal ganglia in man
    • Bhatia KP, Marsden CD. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 1994;117:859-76.
    • (1994) Brain , vol.117 , pp. 859-876
    • Bhatia, K.P.1    Marsden, C.D.2
  • 38
    • 0031789919 scopus 로고    scopus 로고
    • The natural history of tardive dystonia. A long-term follow-up study of 107 cases
    • Kiriakakis V, Bhatia KP, Quinn NP, et al. The natural history of tardive dystonia. A long-term follow-up study of 107 cases. Brain 1998;121:2053-66.
    • (1998) Brain , vol.121 , pp. 2053-2066
    • Kiriakakis, V.1    Bhatia, K.P.2    Quinn, N.P.3
  • 39
    • 0343550311 scopus 로고    scopus 로고
    • An open trial of clozapine for dystonia
    • Karp BI, Goldstein SR, Chen R, et al. An open trial of clozapine for dystonia. Mov Disord 1999;14:652-7.
    • (1999) Mov Disord , vol.14 , pp. 652-657
    • Karp, B.I.1    Goldstein, S.R.2    Chen, R.3
  • 40
    • 0029895604 scopus 로고    scopus 로고
    • Successful treatment of tardive dystonia with clozapine
    • Adityanjee, Estrera AB. Successful treatment of tardive dystonia with clozapine. Biol Psychiatry 1996;39:1064-5.
    • (1996) Biol Psychiatry , vol.39 , pp. 1064-1065
    • Adityanjee1    Estrera, A.B.2
  • 42
    • 0028169918 scopus 로고
    • Treatment of severe axial tardive dystonia with clozapine: Case report and hypothesis
    • Trugman JM, Leadbetter R, Zalis ME, et al. Treatment of severe axial tardive dystonia with clozapine: case report and hypothesis. Mov Disord 1994;9:441-6.
    • (1994) Mov Disord , vol.9 , pp. 441-446
    • Trugman, J.M.1    Leadbetter, R.2    Zalis, M.E.3
  • 43
    • 18744375475 scopus 로고    scopus 로고
    • Long-term high-frequency bilateral pallidal stimulation for neuroleptic-induced tardive dystonia. Report of two cases
    • Franzini A, Marras C, Ferroli P, et al. Long-term high-frequency bilateral pallidal stimulation for neuroleptic-induced tardive dystonia. Report of two cases. J Neurosurg 2005;102:721-5.
    • (2005) J Neurosurg , vol.102 , pp. 721-725
    • Franzini, A.1    Marras, C.2    Ferroli, P.3
  • 44
    • 34447300053 scopus 로고    scopus 로고
    • Deep brain stimulation of the internal globus pallidus for refractory tardive dystonia
    • Cohen OS, Hassin-Baer S, Spiegelmann R. Deep brain stimulation of the internal globus pallidus for refractory tardive dystonia. Parkinsonism Relat Disord 2007;13:541-4.
    • (2007) Parkinsonism Relat Disord , vol.13 , pp. 541-544
    • Cohen, O.S.1    Hassin-Baer, S.2    Spiegelmann, R.3
  • 45
    • 33845898172 scopus 로고    scopus 로고
    • Deep brain stimulation in the treatment of secondary dystonia
    • Zhang JG, Zhang K, Wang ZC, et al. Deep brain stimulation in the treatment of secondary dystonia. Chin Med J (Engl) 2006;119:2069-74.
    • (2006) Chin Med J (Engl) , vol.119 , pp. 2069-2074
    • Zhang, J.G.1    Zhang, K.2    Wang, Z.C.3
  • 46
    • 12544258344 scopus 로고    scopus 로고
    • Treatment of severe tardive dystonia with pallidal deep brain stimulation
    • Trottenberg T, Volkmann J, Deuschl G, et al. Treatment of severe tardive dystonia with pallidal deep brain stimulation. Neurology 2005;64:344-6.
    • (2005) Neurology , vol.64 , pp. 344-346
    • Trottenberg, T.1    Volkmann, J.2    Deuschl, G.3
  • 47
    • 0142103736 scopus 로고    scopus 로고
    • Dystonia: Medical therapy and botulinum toxin
    • Jankovic J. Dystonia: medical therapy and botulinum toxin. Adv Neurol 2004;94:275-86.
    • (2004) Adv Neurol , vol.94 , pp. 275-286
    • Jankovic, J.1
  • 48
    • 33645104621 scopus 로고    scopus 로고
    • Treatment of cervical dystonia with botulinum toxins
    • Comella CL, Thompson PD. Treatment of cervical dystonia with botulinum toxins. Eur J Neurol 2006; 13:16-20.
    • (2006) Eur J Neurol , vol.13 , pp. 16-20
    • Comella, C.L.1    Thompson, P.D.2
  • 49
    • 0036460971 scopus 로고    scopus 로고
    • Chronic high-frequency globus pallidus internus stimulation in different types of dystonia: A clinical, video, and MRI report of six patients presenting with segmental, cervical, and generalized dystonia
    • Bereznai B, Steude U, Seelos K, et al. Chronic high-frequency globus pallidus internus stimulation in different types of dystonia: a clinical, video, and MRI report of six patients presenting with segmental, cervical, and generalized dystonia. Mov Disord 2002; 17:138-44.
    • (2002) Mov Disord , vol.17 , pp. 138-144
    • Bereznai, B.1    Steude, U.2    Seelos, K.3
  • 50
    • 4644297640 scopus 로고    scopus 로고
    • Pallidal deep brain stimulation in cervical dystonia: Clinical outcome in four cases
    • Eltahawy HA, Saint-Cyr J, Poon YY, et al. Pallidal deep brain stimulation in cervical dystonia: clinical outcome in four cases. Can J Neurol Sci 2004;31:328-32.
    • (2004) Can J Neurol Sci , vol.31 , pp. 328-332
    • Eltahawy, H.A.1    Saint-Cyr, J.2    Poon, Y.Y.3
  • 51
    • 13444249730 scopus 로고    scopus 로고
    • Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: Case report and physiology
    • Foote KD, Sanchez JC, Okun MS. Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: case report and physiology. Neurosurgery 2005;56:E415.
    • (2005) Neurosurgery , vol.56
    • Foote, K.D.1    Sanchez, J.C.2    Okun, M.S.3
  • 53
    • 4444366151 scopus 로고    scopus 로고
    • Deep brain stimulation in myoclonus-dystonia syndrome
    • Cif L, Valente EM, Hemm S, et al. Deep brain stimulation in myoclonus-dystonia syndrome. Mov Disord 2004; 19:724-7.
    • (2004) Mov Disord , vol.19 , pp. 724-727
    • Cif, L.1    Valente, E.M.2    Hemm, S.3
  • 54
    • 0042236308 scopus 로고    scopus 로고
    • Treatment of dystonic syndromes by chronic electrical stimulation of the internal globus pallidus
    • Cif L, El Fertit H, Vayssiere N, et al. Treatment of dystonic syndromes by chronic electrical stimulation of the internal globus pallidus. J Neurosurg Sci 2003;47:52-5.
    • (2003) J Neurosurg Sci , vol.47 , pp. 52-55
    • Cif, L.1    El Fertit, H.2    Vayssiere, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.