메뉴 건너뛰기




Volumn 27, Issue 3, 2009, Pages 697-718

Genetics and Treatment of Dystonia

Author keywords

Basal ganglia; Botulinum toxin; Deep brain stimulation; Dystonia; DYT1; Genetics

Indexed keywords

ALPHA SARCOGLYCAN; BACLOFEN; BENZODIAZEPINE DERIVATIVE; BOTULINUM TOXIN; BOTULINUM TOXIN A; BOTULINUM TOXIN B; CARBIDOPA; CARBIDOPA PLUS LEVODOPA; CHOLINERGIC RECEPTOR BLOCKING AGENT; CLONAZEPAM; CYCLOBENZAPRINE; DIAZEPAM; DOPAMINE RECEPTOR STIMULATING AGENT; EPSILON SARCOGLYCAN; GAMMA SARCOGLYCAN; LEVODOPA; LORAZEPAM; MEXILETINE; MORPHINE SULFATE; OXYBATE SODIUM; PARKIN; PENICILLAMINE; SEPIAPTERIN REDUCTASE; TETRATHIOMOLYBDIC ACID; TIZANIDINE; TRIENTINE; TRIHEXYPHENIDYL; UNINDEXED DRUG; ZINC; ZOLPIDEM;

EID: 67449149588     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ncl.2009.04.010     Document Type: Review
Times cited : (26)

References (119)
  • 1
    • 0023675531 scopus 로고
    • Concept and classification of dystonia
    • Fahn S. Concept and classification of dystonia. Adv Neurol 50 (1988) 1-8
    • (1988) Adv Neurol , vol.50 , pp. 1-8
    • Fahn, S.1
  • 2
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius L.J., Hewett J.W., Page C.E., et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17 (1997) 40-48
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 3
    • 0042337403 scopus 로고    scopus 로고
    • Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism
    • Nolte D., Niemann S., and Muller U. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci U S A 100 (2003) 10347-10352
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 10347-10352
    • Nolte, D.1    Niemann, S.2    Muller, U.3
  • 4
    • 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 8 (1994) 236-242
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 5
    • 0036790909 scopus 로고    scopus 로고
    • Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype
    • Asmus F., Zimprich A., Tezenas Du Montcel S., et al. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. Ann Neurol 52 (2002) 489-492
    • (2002) Ann Neurol , vol.52 , pp. 489-492
    • Asmus, F.1    Zimprich, A.2    Tezenas Du Montcel, S.3
  • 6
    • 33947131242 scopus 로고    scopus 로고
    • The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    • Brashear A., Dobyns W.B., de Carvalho Aguiar P., et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 130 (2007) 828-835
    • (2007) Brain , vol.130 , pp. 828-835
    • Brashear, A.1    Dobyns, W.B.2    de Carvalho Aguiar, P.3
  • 7
  • 8
    • 0021816202 scopus 로고
    • Hereditary whispering dysphonia
    • Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 48 (1985) 218-224
    • (1985) J Neurol Neurosurg Psychiatry , vol.48 , pp. 218-224
    • Parker, N.1
  • 9
    • 18044403431 scopus 로고    scopus 로고
    • Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    • Leung J.C., Klein C., Friedman J., et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3 (2001) 133-143
    • (2001) Neurogenetics , vol.3 , pp. 133-143
    • Leung, J.C.1    Klein, C.2    Friedman, J.3
  • 10
    • 10744223557 scopus 로고    scopus 로고
    • Mutations in DYT1: Extension of the phenotypic and mutational spectrum
    • Kabakci K., Hedrich K., Leung J.C., et al. Mutations in DYT1: Extension of the phenotypic and mutational spectrum. Neurology 62 (2004) 395-400
    • (2004) Neurology , vol.62 , pp. 395-400
    • Kabakci, K.1    Hedrich, K.2    Leung, J.C.3
  • 11
    • 56749153892 scopus 로고    scopus 로고
    • Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
    • Zirn B., Grundmann K., Huppke P., et al. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry 79 (2008) 1327-1330
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 1327-1330
    • Zirn, B.1    Grundmann, K.2    Huppke, P.3
  • 12
    • 0034632063 scopus 로고    scopus 로고
    • AAA proteins. Lords of the ring
    • Vale R.D. AAA proteins. Lords of the ring. J Cell Biol 150 (2000) F13-F19
    • (2000) J Cell Biol , vol.150
    • Vale, R.D.1
  • 14
    • 1642433201 scopus 로고    scopus 로고
    • Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
    • Goodchild R.E., and Dauer W.T. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci U S A 101 (2004) 847-852
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 847-852
    • Goodchild, R.E.1    Dauer, W.T.2
  • 15
    • 33645078104 scopus 로고    scopus 로고
    • Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
    • Hewett J.W., Zeng J., Niland B.P., et al. Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol Dis 22 (2006) 98-111
    • (2006) Neurobiol Dis , vol.22 , pp. 98-111
    • Hewett, J.W.1    Zeng, J.2    Niland, B.P.3
  • 16
    • 49649120229 scopus 로고    scopus 로고
    • Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
    • Giles L.M., Chen J., Li L., et al. Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum Mol Genet 17 (2008) 2712-2722
    • (2008) Hum Mol Genet , vol.17 , pp. 2712-2722
    • Giles, L.M.1    Chen, J.2    Li, L.3
  • 17
    • 4844225770 scopus 로고    scopus 로고
    • Brainstem pathology in DYT1 primary torsion dystonia
    • McNaught K.S., Kapustin A., Jackson T., et al. Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol 56 (2004) 540-547
    • (2004) Ann Neurol , vol.56 , pp. 540-547
    • McNaught, K.S.1    Kapustin, A.2    Jackson, T.3
  • 18
    • 19944429223 scopus 로고    scopus 로고
    • Transgenic mouse model of early-onset DYT1 dystonia
    • Shashidharan P., Sandu D., Potla U., et al. Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet 14 (2005) 125-133
    • (2005) Hum Mol Genet , vol.14 , pp. 125-133
    • Shashidharan, P.1    Sandu, D.2    Potla, U.3
  • 19
    • 20044374519 scopus 로고    scopus 로고
    • Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
    • Sharma N., Baxter M.G., Petravicz J., et al. Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J Neurosci 25 (2005) 5351-5355
    • (2005) J Neurosci , vol.25 , pp. 5351-5355
    • Sharma, N.1    Baxter, M.G.2    Petravicz, J.3
  • 20
    • 27744567561 scopus 로고    scopus 로고
    • Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia
    • Dang M.T., Yokoi F., McNaught K.S., et al. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol 196 (2005) 452-463
    • (2005) Exp Neurol , vol.196 , pp. 452-463
    • Dang, M.T.1    Yokoi, F.2    McNaught, K.S.3
  • 21
    • 33751019482 scopus 로고    scopus 로고
    • Motor deficits and hyperactivity in Dyt1 knockdown mice
    • Dang M.T., Yokoi F., Pence M.A., et al. Motor deficits and hyperactivity in Dyt1 knockdown mice. Neurosci Res 56 (2006) 470-474
    • (2006) Neurosci Res , vol.56 , pp. 470-474
    • Dang, M.T.1    Yokoi, F.2    Pence, M.A.3
  • 22
    • 33645814863 scopus 로고    scopus 로고
    • Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
    • Kock N., Naismith T.V., Boston H.E., et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 15 (2006) 1355-1364
    • (2006) Hum Mol Genet , vol.15 , pp. 1355-1364
    • Kock, N.1    Naismith, T.V.2    Boston, H.E.3
  • 23
    • 34250872219 scopus 로고    scopus 로고
    • Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
    • Risch N.J., Bressman S.B., Senthil G., et al. Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 80 (2007) 1188-1193
    • (2007) Am J Hum Genet , vol.80 , pp. 1188-1193
    • Risch, N.J.1    Bressman, S.B.2    Senthil, G.3
  • 24
    • 0344896723 scopus 로고    scopus 로고
    • Candidate gene studies in focal dystonia
    • Sibbing D., Asmus F., Konig I.R., et al. Candidate gene studies in focal dystonia. Neurology 61 (2003) 1097-1101
    • (2003) Neurology , vol.61 , pp. 1097-1101
    • Sibbing, D.1    Asmus, F.2    Konig, I.R.3
  • 25
    • 33845398122 scopus 로고    scopus 로고
    • Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
    • Kamm C., Asmus F., Mueller J., et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 67 (2006) 1857-1859
    • (2006) Neurology , vol.67 , pp. 1857-1859
    • Kamm, C.1    Asmus, F.2    Mueller, J.3
  • 26
    • 0034624938 scopus 로고    scopus 로고
    • The DYT1 phenotype and guidelines for diagnostic testing
    • Bressman S.B., Sabatti C., Raymond D., et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 54 (2000) 1746-1752
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3
  • 27
    • 33750359924 scopus 로고    scopus 로고
    • Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature
    • Fasano A., Nardocci N., Elia A.E., et al. Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature. Mov Disord 21 (2006) 1411-1418
    • (2006) Mov Disord , vol.21 , pp. 1411-1418
    • Fasano, A.1    Nardocci, N.2    Elia, A.E.3
  • 28
    • 0032895322 scopus 로고    scopus 로고
    • Phenotypic variability of the DYT1 mutation in German dystonia patients
    • Leube B., Kessler K.R., Ferbert A., et al. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol Scand 99 (1999) 248-251
    • (1999) Acta Neurol Scand , vol.99 , pp. 248-251
    • Leube, B.1    Kessler, K.R.2    Ferbert, A.3
  • 29
    • 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 22 (2007) 843-847
    • (2007) Mov Disord , vol.22 , pp. 843-847
    • Koukouni, V.1    Martino, D.2    Arabia, G.3
  • 30
    • 33746274737 scopus 로고    scopus 로고
    • DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing east and west
    • Jamora R.D., Tan E.K., Liu C.P., et al. DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing east and west. J Neurol Sci 247 (2006) 35-37
    • (2006) J Neurol Sci , vol.247 , pp. 35-37
    • Jamora, R.D.1    Tan, E.K.2    Liu, C.P.3
  • 31
    • 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 9 (1995) 152-159
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    de Leon, D.2    Ozelius, L.3
  • 32
    • 34249105158 scopus 로고    scopus 로고
    • First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
    • Frederic M., Lucarz E., Monino C., et al. First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mov Disord 22 (2007) 884-888
    • (2007) Mov Disord , vol.22 , pp. 884-888
    • Frederic, M.1    Lucarz, E.2    Monino, C.3
  • 33
    • 0014066997 scopus 로고
    • Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies
    • Zeman W., and Dyken P. Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. Psychiatr Neurol Neurochir 70 (1967) 77-121
    • (1967) Psychiatr Neurol Neurochir , vol.70 , pp. 77-121
    • Zeman, W.1    Dyken, P.2
  • 34
    • 4143083744 scopus 로고    scopus 로고
    • Increased risk for recurrent major depression in DYT1 dystonia mutation carriers
    • Heiman G.A., Ottman R., Saunders-Pullman R.J., et al. Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology 63 (2004) 631-637
    • (2004) Neurology , vol.63 , pp. 631-637
    • Heiman, G.A.1    Ottman, R.2    Saunders-Pullman, R.J.3
  • 35
    • 34247339628 scopus 로고    scopus 로고
    • Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene
    • Heiman G.A., Ottman R., Saunders-Pullman R.J., et al. Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene. Am J Med Genet B Neuropsychiatr Genet 144 (2007) 361-364
    • (2007) Am J Med Genet B Neuropsychiatr Genet , vol.144 , pp. 361-364
    • Heiman, G.A.1    Ottman, R.2    Saunders-Pullman, R.J.3
  • 36
    • 0038123157 scopus 로고    scopus 로고
    • Impaired sequence learning in carriers of the DYT1 dystonia mutation
    • Ghilardi M.F., Carbon M., Silvestri G., et al. Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann Neurol 54 (2003) 102-109
    • (2003) Ann Neurol , vol.54 , pp. 102-109
    • Ghilardi, M.F.1    Carbon, M.2    Silvestri, G.3
  • 37
    • 0037058756 scopus 로고    scopus 로고
    • Diagnostic criteria for dystonia in DYT1 families
    • Bressman S.B., Raymond D., Wendt K., et al. Diagnostic criteria for dystonia in DYT1 families. Neurology 59 (2002) 1780-1782
    • (2002) Neurology , vol.59 , pp. 1780-1782
    • Bressman, S.B.1    Raymond, D.2    Wendt, K.3
  • 38
    • 0031716770 scopus 로고    scopus 로고
    • Functional brain networks in DYT1 dystonia
    • Eidelberg D., Moeller J.R., Antonini A., et al. Functional brain networks in DYT1 dystonia. Ann Neurol 44 (1998) 303-312
    • (1998) Ann Neurol , vol.44 , pp. 303-312
    • Eidelberg, D.1    Moeller, J.R.2    Antonini, A.3
  • 39
    • 12544260182 scopus 로고    scopus 로고
    • Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
    • Asanuma K., Ma Y., Okulski J., et al. Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology 64 (2005) 347-349
    • (2005) Neurology , vol.64 , pp. 347-349
    • Asanuma, K.1    Ma, Y.2    Okulski, J.3
  • 40
    • 3843067672 scopus 로고    scopus 로고
    • Microstructural white matter changes in carriers of the DYT1 gene mutation
    • Carbon M., Kingsley P.B., Su S., et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann Neurol 56 (2004) 283-286
    • (2004) Ann Neurol , vol.56 , pp. 283-286
    • Carbon, M.1    Kingsley, P.B.2    Su, S.3
  • 41
    • 0041320760 scopus 로고    scopus 로고
    • Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation
    • Edwards M.J., Huang Y.Z., Wood N.W., et al. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 126 (2003) 2074-2080
    • (2003) Brain , vol.126 , pp. 2074-2080
    • Edwards, M.J.1    Huang, Y.Z.2    Wood, N.W.3
  • 42
    • 33845864177 scopus 로고    scopus 로고
    • Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
    • Fiorio M., Gambarin M., Valente E.M., et al. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?. Brain 130 (2007) 134-142
    • (2007) Brain , vol.130 , pp. 134-142
    • Fiorio, M.1    Gambarin, M.2    Valente, E.M.3
  • 43
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families
    • Almasy L., Bressman S.B., Raymond D., et al. Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families. Ann Neurol 42 (1997) 670-673
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 44
    • 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 E.M., Bentivoglio A.R., 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 22 (2001) 95-96
    • (2001) Neurol Sci , vol.22 , pp. 95-96
    • Valente, E.M.1    Bentivoglio, A.R.2    Cassetta, E.3
  • 45
    • 52749087100 scopus 로고    scopus 로고
    • A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12
    • Chouery E., Kfoury J., Delague V., et al. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 9 (2008) 287-293
    • (2008) Neurogenetics , vol.9 , pp. 287-293
    • Chouery, E.1    Kfoury, J.2    Delague, V.3
  • 46
    • 61349178832 scopus 로고    scopus 로고
    • Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
    • Fuchs T., Gavarini S., Saunders-Pullman R., et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41 (2009) 286-288
    • (2009) Nat Genet , vol.41 , pp. 286-288
    • Fuchs, T.1    Gavarini, S.2    Saunders-Pullman, R.3
  • 47
    • 64349090856 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    • Bressman S.B., Raymond D., Fuchs T., et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 8 5 (2009) 441-446
    • (2009) Lancet Neurol , vol.8 , Issue.5 , pp. 441-446
    • Bressman, S.B.1    Raymond, D.2    Fuchs, T.3
  • 48
    • 10244255192 scopus 로고    scopus 로고
    • Exclusion of the DYT1 locus in familial torticollis
    • Bressman S.B., Warner T.T., Almasy L., et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 40 (1996) 681-684
    • (1996) Ann Neurol , vol.40 , pp. 681-684
    • Bressman, S.B.1    Warner, T.T.2    Almasy, L.3
  • 49
    • 0033814985 scopus 로고    scopus 로고
    • A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
    • Munchau A., Valente E.M., Davis M.B., et al. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 15 (2000) 954-959
    • (2000) Mov Disord , vol.15 , pp. 954-959
    • Munchau, A.1    Valente, E.M.2    Davis, M.B.3
  • 50
    • 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., et al. 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 5 (1996) 1673-1677
    • (1996) Hum Mol Genet , vol.5 , pp. 1673-1677
    • Leube, B.1    Rudnicki, D.2    Ratzlaff, T.3
  • 52
    • 0034913435 scopus 로고    scopus 로고
    • Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene
    • Placzek M.R., Misbahuddin A., Chaudhuri K.R., et al. Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene. J Neurol Neurosurg Psychiatry 71 (2001) 262-264
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 262-264
    • Placzek, M.R.1    Misbahuddin, A.2    Chaudhuri, K.R.3
  • 53
    • 0037039220 scopus 로고    scopus 로고
    • A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm
    • Misbahuddin A., Placzek M.R., Chaudhuri K.R., et al. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 58 (2002) 124-126
    • (2002) Neurology , vol.58 , pp. 124-126
    • Misbahuddin, A.1    Placzek, M.R.2    Chaudhuri, K.R.3
  • 54
    • 33847762857 scopus 로고    scopus 로고
    • Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
    • Clarimon J., Brancati F., Peckham E., et al. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord 22 (2007) 162-166
    • (2007) Mov Disord , vol.22 , pp. 162-166
    • Clarimon, J.1    Brancati, F.2    Peckham, E.3
  • 55
    • 18244406025 scopus 로고    scopus 로고
    • Torsin A haplotype predisposes to idiopathic dystonia
    • Clarimon J., Asgeirsson H., Singleton A., et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 57 (2005) 765-767
    • (2005) Ann Neurol , vol.57 , pp. 765-767
    • Clarimon, J.1    Asgeirsson, H.2    Singleton, A.3
  • 56
    • 33645827756 scopus 로고    scopus 로고
    • Lack of association with torsinA haplotype in German patients with sporadic dystonia
    • Hague S., Klaffke S., Clarimon J., et al. Lack of association with torsinA haplotype in German patients with sporadic dystonia. Neurology 66 (2006) 951-952
    • (2006) Neurology , vol.66 , pp. 951-952
    • Hague, S.1    Klaffke, S.2    Clarimon, J.3
  • 57
    • 0026437419 scopus 로고
    • Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia
    • Nygaard T.G., Takahashi H., Heiman G.A., et al. Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol 32 (1992) 603-608
    • (1992) Ann Neurol , vol.32 , pp. 603-608
    • Nygaard, T.G.1    Takahashi, H.2    Heiman, G.A.3
  • 58
    • 29644434457 scopus 로고    scopus 로고
    • Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
    • Van Hove J.L., Steyaert J., Matthijs G., et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 77 (2006) 18-23
    • (2006) J Neurol Neurosurg Psychiatry , vol.77 , pp. 18-23
    • Van Hove, J.L.1    Steyaert, J.2    Matthijs, G.3
  • 59
    • 0033541012 scopus 로고    scopus 로고
    • GCH1 mutation in a patient with adult-onset oromandibular dystonia
    • Steinberger D., Topka H., Fischer D., et al. GCH1 mutation in a patient with adult-onset oromandibular dystonia. Neurology 52 (1999) 877-879
    • (1999) Neurology , vol.52 , pp. 877-879
    • Steinberger, D.1    Topka, H.2    Fischer, D.3
  • 60
    • 0027942145 scopus 로고
    • Dopa-responsive dystonia simulating cerebral palsy
    • Nygaard T.G., Waran S.P., Levine R.A., et al. Dopa-responsive dystonia simulating cerebral palsy. Pediatr Neurol 11 (1994) 236-240
    • (1994) Pediatr Neurol , vol.11 , pp. 236-240
    • Nygaard, T.G.1    Waran, S.P.2    Levine, R.A.3
  • 61
    • 0034643818 scopus 로고    scopus 로고
    • Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene
    • Furukawa Y., Kish S.J., and Lang A.E. Scoliosis in a dopa-responsive dystonia family with a mutation of the GTP cyclohydrolase I gene. Neurology 54 (2000) 2187
    • (2000) Neurology , vol.54 , pp. 2187
    • Furukawa, Y.1    Kish, S.J.2    Lang, A.E.3
  • 62
    • 0035949789 scopus 로고    scopus 로고
    • Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness
    • Kong C.K., Ko C.H., Tong S.F., et al. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology 57 (2001) 1121-1124
    • (2001) Neurology , vol.57 , pp. 1121-1124
    • Kong, C.K.1    Ko, C.H.2    Tong, S.F.3
  • 63
    • 0030756449 scopus 로고    scopus 로고
    • GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs
    • Jarman P.R., Bandmann O., Marsden C.D., et al. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J Neurol Neurosurg Psychiatry 63 (1997) 304-308
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 304-308
    • Jarman, P.R.1    Bandmann, O.2    Marsden, C.D.3
  • 64
    • 20044379941 scopus 로고    scopus 로고
    • High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening
    • Hagenah J., Saunders-Pullman R., Hedrich K., et al. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 64 (2005) 908-911
    • (2005) Neurology , vol.64 , pp. 908-911
    • Hagenah, J.1    Saunders-Pullman, R.2    Hedrich, K.3
  • 65
    • 0033376984 scopus 로고    scopus 로고
    • Molecular genetics of dopa-responsive dystonia
    • Ichinose H., Suzuki T., Inagaki H., et al. Molecular genetics of dopa-responsive dystonia. Biol Chem 380 (1999) 1355-1364
    • (1999) Biol Chem , vol.380 , pp. 1355-1364
    • Ichinose, H.1    Suzuki, T.2    Inagaki, H.3
  • 66
    • 0031943362 scopus 로고    scopus 로고
    • Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
    • Furukawa Y., Lang A.E., Trugman J.M., et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 50 (1998) 1015-1020
    • (1998) Neurology , vol.50 , pp. 1015-1020
    • Furukawa, Y.1    Lang, A.E.2    Trugman, J.M.3
  • 67
    • 0142103753 scopus 로고    scopus 로고
    • Update on dopa-responsive dystonia: locus heterogeneity and biochemical features
    • Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 94 (2004) 127-138
    • (2004) Adv Neurol , vol.94 , pp. 127-138
    • Furukawa, Y.1
  • 68
    • 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.P., Luiten B., Smeitink J.A., et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the dutch population. Hum Genet 102 (1998) 644-646
    • (1998) Hum Genet , vol.102 , pp. 644-646
    • van den Heuvel, L.P.1    Luiten, B.2    Smeitink, J.A.3
  • 69
    • 18544406486 scopus 로고    scopus 로고
    • 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study
    • Hanihara T., Inoue K., Kawanishi C., et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord 12 (1997) 408-411
    • (1997) Mov Disord , vol.12 , pp. 408-411
    • Hanihara, T.1    Inoue, K.2    Kawanishi, C.3
  • 70
    • 5444257312 scopus 로고    scopus 로고
    • Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
    • Steinberger D., Blau N., Goriuonov D., et al. Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics 5 (2004) 187-190
    • (2004) Neurogenetics , vol.5 , pp. 187-190
    • Steinberger, D.1    Blau, N.2    Goriuonov, D.3
  • 71
    • 0342369398 scopus 로고    scopus 로고
    • Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    • Tassin J., Durr A., Bonnet A.M., et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 123 Pt 6 (2000) 1112-1121
    • (2000) Brain , vol.123 , Issue.PART 6 , pp. 1112-1121
    • Tassin, J.1    Durr, A.2    Bonnet, A.M.3
  • 72
    • 0038662544 scopus 로고    scopus 로고
    • Parkin disease: a phenotypic study of a large case series
    • Khan N.L., Graham E., Critchley P., et al. Parkin disease: a phenotypic study of a large case series. Brain 126 (2003) 1279-1292
    • (2003) Brain , vol.126 , pp. 1279-1292
    • Khan, N.L.1    Graham, E.2    Critchley, P.3
  • 74
    • 0032705097 scopus 로고    scopus 로고
    • Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
    • Nygaard T.G., Raymond D., Chen C., et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 46 (1999) 794-798
    • (1999) Ann Neurol , vol.46 , pp. 794-798
    • Nygaard, T.G.1    Raymond, D.2    Chen, C.3
  • 75
    • 0035826884 scopus 로고    scopus 로고
    • A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q
    • Vidailhet M., Tassin J., Durif F., et al. A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q. Neurology 56 (2001) 1213-1216
    • (2001) Neurology , vol.56 , pp. 1213-1216
    • Vidailhet, M.1    Tassin, J.2    Durif, F.3
  • 76
    • 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 29 (2001) 66-69
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 77
    • 34848872531 scopus 로고    scopus 로고
    • Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
    • Asmus F., Hjermind L.E., Dupont E., et al. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 130 (2007) 2736-2745
    • (2007) Brain , vol.130 , pp. 2736-2745
    • Asmus, F.1    Hjermind, L.E.2    Dupont, E.3
  • 78
    • 38949166903 scopus 로고    scopus 로고
    • Myoclonus-dystonia: significance of large SGCE deletions
    • Grunewald A., Djarmati A., Lohmann-Hedrich K., et al. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat 29 (2008) 331-332
    • (2008) Hum Mutat , vol.29 , pp. 331-332
    • Grunewald, A.1    Djarmati, A.2    Lohmann-Hedrich, K.3
  • 79
    • 54049098434 scopus 로고    scopus 로고
    • Myoclonus-dystonia due to maternal uniparental disomy
    • Guettard E., Portnoi M.F., Lohmann-Hedrich K., et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 65 (2008) 1380-1385
    • (2008) Arch Neurol , vol.65 , pp. 1380-1385
    • Guettard, E.1    Portnoi, M.F.2    Lohmann-Hedrich, K.3
  • 80
    • 0036916437 scopus 로고    scopus 로고
    • Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
    • Muller 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 71 (2002) 1303-1311
    • (2002) Am J Hum Genet , vol.71 , pp. 1303-1311
    • Muller, B.1    Hedrich, K.2    Kock, N.3
  • 81
    • 0037301222 scopus 로고    scopus 로고
    • The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
    • Grabowski M., Zimprich A., Lorenz-Depiereux B., et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 11 (2003) 138-144
    • (2003) Eur J Hum Genet , vol.11 , pp. 138-144
    • Grabowski, M.1    Zimprich, A.2    Lorenz-Depiereux, B.3
  • 82
    • 34249100202 scopus 로고    scopus 로고
    • Refinement of the DYT15 locus in myoclonus dystonia
    • Han F., Racacho L., Lang A.E., et al. Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord 22 (2007) 888-892
    • (2007) Mov Disord , vol.22 , pp. 888-892
    • Han, F.1    Racacho, L.2    Lang, A.E.3
  • 83
    • 0025084837 scopus 로고
    • Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation
    • Kyllerman M., Forsgren L., Sanner G., et al. Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 5 (1990) 270-279
    • (1990) Mov Disord , vol.5 , pp. 270-279
    • Kyllerman, M.1    Forsgren, L.2    Sanner, G.3
  • 84
    • 57049180145 scopus 로고    scopus 로고
    • A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome
    • Marelli C., Canafoglia L., Zibordi F., et al. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord 23 (2008) 2041-2048
    • (2008) Mov Disord , vol.23 , pp. 2041-2048
    • Marelli, C.1    Canafoglia, L.2    Zibordi, F.3
  • 85
    • 0037154246 scopus 로고    scopus 로고
    • Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence
    • Saunders-Pullman R., Shriberg J., Heiman G., et al. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 58 (2002) 242-245
    • (2002) Neurology , vol.58 , pp. 242-245
    • Saunders-Pullman, R.1    Shriberg, J.2    Heiman, G.3
  • 86
    • 34548209207 scopus 로고    scopus 로고
    • Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred
    • McKeon A., Ozelius L.J., Hardiman O., et al. Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. Mov Disord 22 (2007) 1325-1327
    • (2007) Mov Disord , vol.22 , pp. 1325-1327
    • McKeon, A.1    Ozelius, L.J.2    Hardiman, O.3
  • 87
    • 3242700773 scopus 로고    scopus 로고
    • + -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    • + -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43 (2004) 169-175
    • (2004) Neuron , vol.43 , pp. 169-175
    • de Carvalho Aguiar, P.1    Sweadner, K.J.2    Penniston, J.T.3
  • 88
    • 0016907182 scopus 로고
    • Torsion dystonia in Panay, Philippines
    • Lee L.V., Pascasio F.M., Fuentes F.D., et al. Torsion dystonia in Panay, Philippines. Adv Neurol 14 (1976) 137-151
    • (1976) Adv Neurol , vol.14 , pp. 137-151
    • Lee, L.V.1    Pascasio, F.M.2    Fuentes, F.D.3
  • 89
    • 0036460859 scopus 로고    scopus 로고
    • X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype?
    • Evidente V.G., Gwinn-Hardy K., Hardy J., et al. X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype?. Mov Disord 17 (2002) 200-202
    • (2002) Mov Disord , vol.17 , pp. 200-202
    • Evidente, V.G.1    Gwinn-Hardy, K.2    Hardy, J.3
  • 90
    • 0036869215 scopus 로고    scopus 로고
    • Phenomenology of "Lubag" or X-linked dystonia-parkinsonism
    • Evidente V.G., Advincula J., Esteban R., et al. Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord 17 (2002) 1271-1277
    • (2002) Mov Disord , vol.17 , pp. 1271-1277
    • Evidente, V.G.1    Advincula, J.2    Esteban, R.3
  • 91
    • 10044263368 scopus 로고    scopus 로고
    • Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women
    • Evidente V.G., Nolte D., Niemann S., et al. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women. Arch Neurol 61 (2004) 1956-1959
    • (2004) Arch Neurol , vol.61 , pp. 1956-1959
    • Evidente, V.G.1    Nolte, D.2    Niemann, S.3
  • 92
    • 0027182918 scopus 로고
    • Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women
    • Waters C.H., Takahashi H., Wilhelmsen K.C., et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology 43 (1993) 1555-1558
    • (1993) Neurology , vol.43 , pp. 1555-1558
    • Waters, C.H.1    Takahashi, H.2    Wilhelmsen, K.C.3
  • 93
    • 0027268724 scopus 로고
    • Neuropathology of lubag (x-linked dystonia parkinsonism)
    • Waters C.H., Faust P.L., Powers J., et al. Neuropathology of lubag (x-linked dystonia parkinsonism). Mov Disord 8 (1993) 387-390
    • (1993) Mov Disord , vol.8 , pp. 387-390
    • Waters, C.H.1    Faust, P.L.2    Powers, J.3
  • 94
    • 21844443362 scopus 로고    scopus 로고
    • Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
    • Goto S., Lee L.V., Munoz E.L., et al. Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism. Ann Neurol 58 (2005) 7-17
    • (2005) Ann Neurol , vol.58 , pp. 7-17
    • Goto, S.1    Lee, L.V.2    Munoz, E.L.3
  • 95
    • 33645733769 scopus 로고    scopus 로고
    • Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease
    • Brewer G.J., Askari F., Lorincz M.T., et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 63 (2006) 521-527
    • (2006) Arch Neurol , vol.63 , pp. 521-527
    • Brewer, G.J.1    Askari, F.2    Lorincz, M.T.3
  • 96
    • 43149083728 scopus 로고    scopus 로고
    • Assessment: Botulinum neurotoxin for the treatment of movement disorders (an evidence-based review): report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology
    • Simpson D.M., Blitzer A., Brashear A., et al. Assessment: Botulinum neurotoxin for the treatment of movement disorders (an evidence-based review): report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology 70 (2008) 1699-1706
    • (2008) Neurology , vol.70 , pp. 1699-1706
    • Simpson, D.M.1    Blitzer, A.2    Brashear, A.3
  • 97
    • 47549117426 scopus 로고    scopus 로고
    • Botulinum toxin type B vs. type A in toxin-naive patients with cervical dystonia: randomized, double-blind, noninferiority trial
    • Myobloc/Neurobloc European Cervical Dystonia Study Group
    • Pappert E.J., Germanson T., and Myobloc/Neurobloc European Cervical Dystonia Study Group. Botulinum toxin type B vs. type A in toxin-naive patients with cervical dystonia: randomized, double-blind, noninferiority trial. Mov Disord 23 (2008) 510-517
    • (2008) Mov Disord , vol.23 , pp. 510-517
    • Pappert, E.J.1    Germanson, T.2
  • 98
    • 33845939760 scopus 로고    scopus 로고
    • Clinico-immunologic aspects of botulinum toxin type B treatment of cervical dystonia
    • Jankovic J., Hunter C., Dolimbek B.Z., et al. Clinico-immunologic aspects of botulinum toxin type B treatment of cervical dystonia. Neurology 67 (2006) 2233-2235
    • (2006) Neurology , vol.67 , pp. 2233-2235
    • Jankovic, J.1    Hunter, C.2    Dolimbek, B.Z.3
  • 99
    • 23944454472 scopus 로고    scopus 로고
    • Botulinum toxin type B de novo therapy of cervical dystonia: frequency of antibody induced therapy failure
    • Dressler D., and Bigalke H. Botulinum toxin type B de novo therapy of cervical dystonia: frequency of antibody induced therapy failure. J Neurol 252 (2005) 904-907
    • (2005) J Neurol , vol.252 , pp. 904-907
    • Dressler, D.1    Bigalke, H.2
  • 100
    • 67449129148 scopus 로고    scopus 로고
    • Responsiveness to levodopa in epsilon-sarcoglycan deletions
    • Luciano M.S., Ozelius L., Sims K., et al. Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord 24 (2009) 425-428
    • (2009) Mov Disord , vol.24 , pp. 425-428
    • Luciano, M.S.1    Ozelius, L.2    Sims, K.3
  • 101
    • 0343550311 scopus 로고    scopus 로고
    • An open trial of clozapine for dystonia
    • Karp B.I., Goldstein S.R., Chen R., et al. An open trial of clozapine for dystonia. Mov Disord 14 (1999) 652-657
    • (1999) Mov Disord , vol.14 , pp. 652-657
    • Karp, B.I.1    Goldstein, S.R.2    Chen, R.3
  • 102
    • 33645872123 scopus 로고    scopus 로고
    • Tetrabenazine in the treatment of hyperkinetic movement disorders
    • Kenney C., and Jankovic J. Tetrabenazine in the treatment of hyperkinetic movement disorders. Expert Rev Neurother 6 (2006) 7-17
    • (2006) Expert Rev Neurother , vol.6 , pp. 7-17
    • Kenney, C.1    Jankovic, J.2
  • 103
    • 33847731495 scopus 로고    scopus 로고
    • Long-term tolerability of tetrabenazine in the treatment of hyperkinetic movement disorders
    • Kenney C., Hunter C., and Jankovic J. Long-term tolerability of tetrabenazine in the treatment of hyperkinetic movement disorders. Mov Disord 22 (2007) 193-197
    • (2007) Mov Disord , vol.22 , pp. 193-197
    • Kenney, C.1    Hunter, C.2    Jankovic, J.3
  • 104
    • 0023808442 scopus 로고
    • Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs
    • Greene P., Shale H., and Fahn S. Analysis of open-label trials in torsion dystonia using high dosages of anticholinergics and other drugs. Mov Disord 3 (1988) 46-60
    • (1988) Mov Disord , vol.3 , pp. 46-60
    • Greene, P.1    Shale, H.2    Fahn, S.3
  • 105
    • 0022625203 scopus 로고
    • Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl
    • Burke R.E., Fahn S., and Marsden C.D. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology 36 (1986) 160-164
    • (1986) Neurology , vol.36 , pp. 160-164
    • Burke, R.E.1    Fahn, S.2    Marsden, C.D.3
  • 106
    • 34547700411 scopus 로고    scopus 로고
    • The role of intrathecal baclofen in the management of primary and secondary dystonia in children
    • Woon K., Tsegaye M., and Vloeberghs M.H. The role of intrathecal baclofen in the management of primary and secondary dystonia in children. Br J Neurosurg 21 (2007) 355-358
    • (2007) Br J Neurosurg , vol.21 , pp. 355-358
    • Woon, K.1    Tsegaye, M.2    Vloeberghs, M.H.3
  • 107
    • 33645738757 scopus 로고    scopus 로고
    • A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor
    • Frucht S.J., Houghton W.C., Bordelon Y., et al. A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor. Neurology 65 (2005) 1967-1969
    • (2005) Neurology , vol.65 , pp. 1967-1969
    • Frucht, S.J.1    Houghton, W.C.2    Bordelon, Y.3
  • 108
    • 0037176863 scopus 로고    scopus 로고
    • Zolpidem improves dystonia in "Lubag" or X-linked dystonia-parkinsonism syndrome
    • Evidente V.G. Zolpidem improves dystonia in "Lubag" or X-linked dystonia-parkinsonism syndrome. Neurology 58 (2002) 662-663
    • (2002) Neurology , vol.58 , pp. 662-663
    • Evidente, V.G.1
  • 109
    • 33846860660 scopus 로고    scopus 로고
    • Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study
    • Vidailhet M., Vercueil L., Houeto J.L., et al. Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study. Lancet Neurol 6 (2007) 223-229
    • (2007) Lancet Neurol , vol.6 , pp. 223-229
    • Vidailhet, M.1    Vercueil, L.2    Houeto, J.L.3
  • 110
    • 46849099182 scopus 로고    scopus 로고
    • Outcome predictors of pallidal stimulation in patients with primary dystonia: The role of disease duration
    • Isaias I.U., Alterman R.L., and Tagliati M. Outcome predictors of pallidal stimulation in patients with primary dystonia: The role of disease duration. Brain 131 (2008) 1895-1902
    • (2008) Brain , vol.131 , pp. 1895-1902
    • Isaias, I.U.1    Alterman, R.L.2    Tagliati, M.3
  • 111
    • 39549087459 scopus 로고    scopus 로고
    • Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: results from a prospective, randomized sham-controlled trial
    • Mueller J., Skogseid I.M., Benecke R., et al. Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: results from a prospective, randomized sham-controlled trial. Mov Disord 23 (2008) 131-134
    • (2008) Mov Disord , vol.23 , pp. 131-134
    • Mueller, J.1    Skogseid, I.M.2    Benecke, R.3
  • 112
    • 35648983930 scopus 로고    scopus 로고
    • The Canadian multicentre study of deep brain stimulation for cervical dystonia
    • Kiss Z.H., Doig-Beyaert K., Eliasziw M., et al. The Canadian multicentre study of deep brain stimulation for cervical dystonia. Brain 130 (2007) 2879-2886
    • (2007) Brain , vol.130 , pp. 2879-2886
    • Kiss, Z.H.1    Doig-Beyaert, K.2    Eliasziw, M.3
  • 113
    • 53449090246 scopus 로고    scopus 로고
    • A prospective blinded evaluation of deep brain stimulation for the treatment of secondary dystonia and primary torticollis syndromes
    • Pretto T.E., Dalvi A., Kang U.J., et al. A prospective blinded evaluation of deep brain stimulation for the treatment of secondary dystonia and primary torticollis syndromes. J Neurosurg 109 (2008) 405-409
    • (2008) J Neurosurg , vol.109 , pp. 405-409
    • Pretto, T.E.1    Dalvi, A.2    Kang, U.J.3
  • 114
    • 62849126530 scopus 로고    scopus 로고
    • Pallidal stimulation in cervical dystonia: clinical implications of acute changes in stimulation parameters
    • Moro E., Piboolnurak P., Arenovich T., et al. Pallidal stimulation in cervical dystonia: clinical implications of acute changes in stimulation parameters. Eur J Neurol 16 (2009) 506-512
    • (2009) Eur J Neurol , vol.16 , pp. 506-512
    • Moro, E.1    Piboolnurak, P.2    Arenovich, T.3
  • 115
    • 34547899540 scopus 로고    scopus 로고
    • Sixty hertz pallidal deep brain stimulation for primary torsion dystonia
    • Alterman R.L., Miravite J., Weisz D., et al. Sixty hertz pallidal deep brain stimulation for primary torsion dystonia. Neurology 69 (2007) 681-688
    • (2007) Neurology , vol.69 , pp. 681-688
    • Alterman, R.L.1    Miravite, J.2    Weisz, D.3
  • 116
    • 58849163071 scopus 로고    scopus 로고
    • Deep brain stimulation of the posterior subthalamic area in the treatment of tremor
    • Blomstedt P., Fytagoridis A., and Tisch S. Deep brain stimulation of the posterior subthalamic area in the treatment of tremor. Acta Neurochir (Wien) 151 (2009) 31-36
    • (2009) Acta Neurochir (Wien) , vol.151 , pp. 31-36
    • Blomstedt, P.1    Fytagoridis, A.2    Tisch, S.3
  • 117
    • 57049092754 scopus 로고    scopus 로고
    • Subthalamotomy in cervical dystonia: a case study of lesion location and clinical outcome
    • Moll C.K., Hamel W., Ostertag C.B., et al. Subthalamotomy in cervical dystonia: a case study of lesion location and clinical outcome. Mov Disord 23 (2008) 1751-1756
    • (2008) Mov Disord , vol.23 , pp. 1751-1756
    • Moll, C.K.1    Hamel, W.2    Ostertag, C.B.3
  • 118
    • 61449147224 scopus 로고    scopus 로고
    • Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation
    • Kim M.J., Jeon S.R., Yoo H.W., et al. Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation. Mov Disord 23 (2008) 2251-2255
    • (2008) Mov Disord , vol.23 , pp. 2251-2255
    • Kim, M.J.1    Jeon, S.R.2    Yoo, H.W.3
  • 119
    • 60349117766 scopus 로고    scopus 로고
    • Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome
    • Kuncel A.M., Turner D.A., Ozelius L.J., et al. Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome. Clin Neurol Neurosurg 111 (2009) 303-306
    • (2009) Clin Neurol Neurosurg , vol.111 , pp. 303-306
    • Kuncel, A.M.1    Turner, D.A.2    Ozelius, L.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.