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Volumn 27, Issue 4, 2014, Pages 468-476

Dystonia: An update on phenomenology, classification, pathogenesis and treatment

Author keywords

approach; classification; dystonia; genetics; phenotype

Indexed keywords

BOTULINUM TOXIN; ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ALS2 PROTEIN, HUMAN; ANOCTAMIN 3, HUMAN; ATP1A3 PROTEIN, HUMAN; CHLORIDE CHANNEL; CIZ1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; GUANINE NUCLEOTIDE EXCHANGE FACTOR; NUCLEAR PROTEIN; OLFACTORY G PROTEIN SUBUNIT ALPHA OLF;

EID: 84904071150     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0000000000000114     Document Type: Review
Times cited : (81)

References (76)
  • 1
    • 0001473859 scopus 로고
    • About a rare spasm disease of childhood and young age (Dysbasia lordotica progressiva, dystonia musculorum deformans)
    • Oppenheim H. About a rare spasm disease of childhood and young age (Dysbasia lordotica progressiva, dystonia musculorum deformans). Neurologische Centralblatt 1911; 30:1090-1107.
    • (1911) Neurologische Centralblatt , vol.30 , pp. 1090-1107
    • Oppenheim, H.1
  • 2
    • 84880720864 scopus 로고    scopus 로고
    • Primary and secondary dystonic syndromes: An update
    • Charlesworth G, Bhatia KP. Primary and secondary dystonic syndromes: an update. Curr Opin Neurol 2013; 26:406-412.
    • (2013) Curr Opin Neurol , vol.26 , pp. 406-412
    • Charlesworth, G.1    Bhatia, K.P.2
  • 3
    • 84880772785 scopus 로고    scopus 로고
    • Phenomenology and classification of dystonia: A consensus update
    • Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28:863-873.
    • (2013) Mov Disord , vol.28 , pp. 863-873
    • Albanese, A.1    Bhatia, K.2    Bressman, S.B.3
  • 4
    • 84880829090 scopus 로고    scopus 로고
    • Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes
    • Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord 2013; 28:889-898.
    • (2013) Mov Disord , vol.28 , pp. 889-898
    • Fung, V.S.1    Jinnah, H.A.2    Bhatia, K.3    Vidailhet, M.4
  • 5
    • 79957617158 scopus 로고    scopus 로고
    • Classification of movement disorders
    • Fahn S. Classification of movement disorders. Mov Disord 2011; 26:947-957.
    • (2011) Mov Disord , vol.26 , pp. 947-957
    • Fahn, S.1
  • 6
    • 78650149431 scopus 로고    scopus 로고
    • EFNS guidelines on diagnosis and treatment of primary dystonias
    • Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
    • (2011) Eur J Neurol , vol.18 , pp. 5-18
    • Albanese, A.1    Asmus, F.2    Bhatia, K.P.3
  • 7
    • 84892549791 scopus 로고    scopus 로고
    • Primary dystonias and genetic disorders with dystonia as clinical feature of the disease
    • Moghimi N, Jabbari B, Szekely AM. Primary dystonias and genetic disorders with dystonia as clinical feature of the disease. Eur J Paediatr Neurol 2014; 18:79-105.
    • (2014) Eur J Paediatr Neurol , vol.18 , pp. 79-105
    • Moghimi, N.1    Jabbari, B.2    Szekely, A.M.3
  • 8
    • 84870889212 scopus 로고    scopus 로고
    • Mutations in ANO3 cause dominant craniocervical dystonia: Ion channel implicated in pathogenesis
    • Charlesworth G, Plagnol V, Holmström KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012; 91:1041-1050.
    • (2012) Am J Hum Genet , vol.91 , pp. 1041-1050
    • Charlesworth, G.1    Plagnol, V.2    Holmström, K.M.3
  • 9
    • 84902263798 scopus 로고    scopus 로고
    • The phenotypic spectrum of DYT24 due to ANO3 mutations
    • doi: 10.1002/mds.25802
    • Stamelou M, Charlesworth G, Cordivari C, et al. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord 2014. doi: 10.1002/mds.25802.
    • (2014) Mov Disord
    • Stamelou, M.1    Charlesworth, G.2    Cordivari, C.3
  • 10
    • 84892921433 scopus 로고    scopus 로고
    • Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls
    • Zech M, Gross N, Jochim A, et al. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord 2014; 29:143-147.
    • (2014) Mov Disord , vol.29 , pp. 143-147
    • Zech, M.1    Gross, N.2    Jochim, A.3
  • 11
    • 84871945164 scopus 로고    scopus 로고
    • Mutations in GNAL cause primary torsion dystonia
    • Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2012; 45:88-92.
    • (2012) Nat Genet , vol.45 , pp. 88-92
    • Fuchs, T.1    Saunders-Pullman, R.2    Masuho, I.3
  • 12
    • 84878508579 scopus 로고    scopus 로고
    • Role of G((olf) in familial and sporadic adult-onset primary dystonia
    • Vemula SR, Puschmann A, Xiao J, et al. Role of G((olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet 2013; 22:2510-2519.
    • (2013) Hum Mol Genet , vol.22 , pp. 2510-2519
    • Vemula, S.R.1    Puschmann, A.2    Xiao, J.3
  • 13
    • 84906098377 scopus 로고    scopus 로고
    • Screening of mutations in GNAL in sporadic dystonia patients
    • doi: 10.1002/mds.25794
    • Dufke C, Sturm M, Schroeder C, et al. Screening of mutations in GNAL in sporadic dystonia patients. Mov Disord 2014. doi: 10.1002/mds.25794.
    • (2014) Mov Disord
    • Dufke, C.1    Sturm, M.2    Schroeder, C.3
  • 14
    • 84899031959 scopus 로고    scopus 로고
    • Mutations in GNAL: A novel cause of craniocervical dystonia
    • Kumar KR, Lohmann K, Masuho I, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014; 71:490-494.
    • (2014) JAMA Neurol , vol.71 , pp. 490-494
    • Kumar, K.R.1    Lohmann, K.2    Masuho, I.3
  • 15
    • 84892934436 scopus 로고    scopus 로고
    • No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia
    • Charlesworth G, Bhatia KP, Wood NW. No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord 2014; 29:154-155.
    • (2014) Mov Disord , vol.29 , pp. 154-155
    • Charlesworth, G.1    Bhatia, K.P.2    Wood, N.W.3
  • 16
    • 84887628011 scopus 로고    scopus 로고
    • No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families
    • Ma L, Chen R, Wang L, et al. No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families. Mov Disord 2013; 28:1899-1901.
    • (2013) Mov Disord , vol.28 , pp. 1899-1901
    • Ma, L.1    Chen, R.2    Wang, L.3
  • 17
    • 84899830208 scopus 로고    scopus 로고
    • Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites
    • Saunders-Pullman R, Fuchs T, San Luciano M, et al. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord 2014; 29:812-818.
    • (2014) Mov Disord , vol.29 , pp. 812-818
    • Saunders-Pullman, R.1    Fuchs, T.2    San Luciano, M.3
  • 19
    • 84862825134 scopus 로고    scopus 로고
    • Mutations in CIZ1 cause adult onset primary cervical dystonia
    • Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012; 71:458-469.
    • (2012) Ann Neurol , vol.71 , pp. 458-469
    • Xiao, J.1    Uitti, R.J.2    Zhao, Y.3
  • 20
    • 84878408023 scopus 로고    scopus 로고
    • Mutations in the autoregulatory domain of (-tubulin 4a cause hereditary dystonia
    • doi:10.1002/ana.23832
    • Hersheson J, Mencacci NE, Davis M, et al. Mutations in the autoregulatory domain of (-tubulin 4a cause hereditary dystonia. Ann Neurol 2013; 73:546-553: doi:10.1002/ana.23832.
    • (2013) Ann Neurol , vol.73 , pp. 546-553
    • Hersheson, J.1    Mencacci, N.E.2    Davis, M.3
  • 21
    • 84876874253 scopus 로고    scopus 로고
    • Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
    • doi:10.1002/ana.23829
    • Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013; 73:537-545. doi:10.1002/ana.23829.
    • (2013) Ann Neurol , vol.73 , pp. 537-545
    • Lohmann, K.1    Wilcox, R.A.2    Winkler, S.3
  • 22
    • 84902156286 scopus 로고    scopus 로고
    • Pathogenic variants in TUBB4A are not found in primary dystonia
    • Vemula SR, Xiao J, Bastian RW, et al. Pathogenic variants in TUBB4A are not found in primary dystonia. Neurology 2014; 82:1227-1230.
    • (2014) Neurology , vol.82 , pp. 1227-1230
    • Vemula, S.R.1    Xiao, J.2    Bastian, R.W.3
  • 23
    • 84877586063 scopus 로고    scopus 로고
    • A de novo mutation in the b-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
    • Simons C, Wolf NI, McNeil N, et al. A de novo mutation in the b-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet 2013; 92:767-773.
    • (2013) Am J Hum Genet , vol.92 , pp. 767-773
    • Simons, C.1    Wolf, N.I.2    McNeil, N.3
  • 24
    • 81955164822 scopus 로고    scopus 로고
    • Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
    • Wilcox RA, Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. Mov Disord 2011; 26:2404-2408.
    • (2011) Mov Disord , vol.26 , pp. 2404-2408
    • Wilcox, R.A.1    Winkler, S.2    Lohmann, K.3    Klein, C.4
  • 25
    • 84900500572 scopus 로고    scopus 로고
    • Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene
    • Blumkin L, Halevy A, Ben-Ami-Raichman D, et al. Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics 2014; 15:4107-4113.
    • (2014) Neurogenetics , vol.15 , pp. 4107-4113
    • Blumkin, L.1    Halevy, A.2    Ben-Ami-Raichman, D.3
  • 27
    • 0023763764 scopus 로고
    • Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
    • Quinn NP, Rothwell JC, Thompson PD, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988; 50:391-401.
    • (1988) Adv Neurol , vol.50 , pp. 391-401
    • Quinn, N.P.1    Rothwell, J.C.2    Thompson, P.D.3    Marsden, C.D.4
  • 28
    • 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; 29:66-69.
    • (2001) Nat Genet , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3
  • 29
    • 84858648229 scopus 로고    scopus 로고
    • Overview of primary monogenic dystonia
    • Spatola M, Wider C. Overview of primary monogenic dystonia. Parkinsonism Relat Disord 2012; 18 (Suppl 1):S158-S161.
    • (2012) Parkinsonism Relat Disord , vol.18 , Issue.SUPPL. 1
    • Spatola, M.1    Wider, C.2
  • 30
    • 84879603088 scopus 로고    scopus 로고
    • Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria
    • Carecchio M, Magliozzi M, Copetti M, et al. Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. Mov Disord 2013; 28:787-794.
    • (2013) Mov Disord , vol.28 , pp. 787-794
    • Carecchio, M.1    Magliozzi, M.2    Copetti, M.3
  • 31
    • 0037159230 scopus 로고    scopus 로고
    • A novel locus for inherited myoclonusdystonia on 18p11
    • Grimes DA, Han F, Lang AE, et al. A novel locus for inherited myoclonusdystonia on 18p11. Neurology 2002; 59:1183-1186.
    • (2002) Neurology , vol.59 , pp. 1183-1186
    • Grimes, D.A.1    Han, F.2    Lang, A.E.3
  • 32
    • 77952995720 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis
    • Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010; 133 (Pt 6):1810-1822.
    • (2010) Brain , vol.133 , Issue.PART 6 , pp. 1810-1822
    • Willemsen, M.A.1    Verbeek, M.M.2    Kamsteeg, E.J.3
  • 33
    • 84866087908 scopus 로고    scopus 로고
    • Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
    • Stamelou M, Mencacci NE, Cordivari C, et al. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology 2012; 79:435-441.
    • (2012) Neurology , vol.79 , pp. 435-441
    • Stamelou, M.1    Mencacci, N.E.2    Cordivari, C.3
  • 34
    • 18344393450 scopus 로고    scopus 로고
    • Mutations in TITF-1 are associated with benign hereditary chorea
    • Breedveld GJ, van Dongen JW, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11:971-979.
    • (2002) Hum Mol Genet , vol.11 , pp. 971-979
    • Breedveld, G.J.1    Van Dongen, J.W.2    Danesino, C.3
  • 35
    • 80055091462 scopus 로고    scopus 로고
    • Expanding the phenomenology of benign hereditary chorea: Evolution from chorea to myoclonus and dystonia
    • Armstrong MJ, Shah BB, Chen R, et al. Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord 2011; 26:2296-2297.
    • (2011) Mov Disord , vol.26 , pp. 2296-2297
    • Armstrong, M.J.1    Shah, B.B.2    Chen, R.3
  • 36
    • 84866149000 scopus 로고    scopus 로고
    • Benign hereditary chorea: Phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
    • Gras D, Jonard L, Roze E, et al. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry 2012; 83:956-962.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 956-962
    • Gras, D.1    Jonard, L.2    Roze, E.3
  • 38
    • 84887480301 scopus 로고    scopus 로고
    • Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
    • Charlesworth G, Mohire MD, Schneider SA, et al. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 2013; 81: 1148-1151.
    • (2013) Neurology , vol.81 , pp. 1148-1151
    • Charlesworth, G.1    Mohire, M.D.2    Schneider, S.A.3
  • 39
    • 84857132924 scopus 로고    scopus 로고
    • The autosomal recessive cerebellar ataxias
    • Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012; 366:636-646.
    • (2012) N Engl J Med , vol.366 , pp. 636-646
    • Anheim, M.1    Tranchant, C.2    Koenig, M.3
  • 40
    • 84896492057 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: A case report
    • Baschieri F, Batla A, Erro R, et al. Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report. J Neurol 2014; 261:615-616.
    • (2014) J Neurol , vol.261 , pp. 615-616
    • Baschieri, F.1    Batla, A.2    Erro, R.3
  • 41
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: Clinical features and classification
    • Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38:571-579.
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 42
    • 84879604371 scopus 로고    scopus 로고
    • The syndrome of deafness-dystonia: Clinical and genetic heterogeneity
    • Kojovic M, Pareé s I, Lampreia T, et al. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Mov Disord 2013; 28:795-803.
    • (2013) Mov Disord , vol.28 , pp. 795-803
    • Kojovic, M.1    Pareé, S.I.2    Lampreia, T.3
  • 43
    • 84898742036 scopus 로고    scopus 로고
    • ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia
    • Sheerin UM, Schneider SA, Carr L, et al. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014; 82: 1065-1067.
    • (2014) Neurology , vol.82 , pp. 1065-1067
    • Sheerin, U.M.1    Schneider, S.A.2    Carr, L.3
  • 44
    • 67651007160 scopus 로고    scopus 로고
    • Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
    • Kurian MA, Zhen J, Cheng SY, et al. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest 2009; 119:1595-1603.
    • (2009) J Clin Invest , vol.119 , pp. 1595-1603
    • Kurian, M.A.1    Zhen, J.2    Cheng, S.Y.3
  • 45
    • 84897882229 scopus 로고    scopus 로고
    • Dopamine transporter deficiency syndrome: Phenotypic spectrum from infancy to adulthood
    • Ng J, Zhen J, Meyer E, et al. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain 2014; 137 (Pt 4): 1107-1119.
    • (2014) Brain , vol.137 , Issue.PART 4 , pp. 1107-1119
    • Ng, J.1    Zhen, J.2    Meyer, E.3
  • 46
    • 84865133147 scopus 로고    scopus 로고
    • Clinical spectrum of disease associated with ATP1A3 mutations
    • Ozelius LJ. Clinical spectrum of disease associated with ATP1A3 mutations. Lancet Neurol 2012; 11:741-743.
    • (2012) Lancet Neurol , vol.11 , pp. 741-743
    • Ozelius, L.J.1
  • 47
    • 84898729032 scopus 로고    scopus 로고
    • The expanding clinical and genetic spectrum of ATP1A3-related disorders
    • Rosewich H, Ohlenbusch A, Huppke P, et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology 2014; 82:945-955.
    • (2014) Neurology , vol.82 , pp. 945-955
    • Rosewich, H.1    Ohlenbusch, A.2    Huppke, P.3
  • 48
    • 84867232035 scopus 로고    scopus 로고
    • ATP1A3 mutations in infants: A new rapidonset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia
    • Brashear A, Mink JW, Hill DF, et al. ATP1A3 mutations in infants: a new rapidonset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol 2012; 54:1065-1067.
    • (2012) Dev Med Child Neurol , vol.54 , pp. 1065-1067
    • Brashear, A.1    Mink, J.W.2    Hill, D.F.3
  • 49
    • 84884727929 scopus 로고    scopus 로고
    • The multiple faces of the ATP1A3-related dystonic movement disorder
    • Roubergue A, Roze E, Vuillaumier-Barrot S, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord 2013; 28:1457-1459.
    • (2013) Mov Disord , vol.28 , pp. 1457-1459
    • Roubergue, A.1    Roze, E.2    Vuillaumier-Barrot, S.3
  • 50
    • 84896117313 scopus 로고    scopus 로고
    • Cognitive impairment in rapid-onset dystonia-parkinsonism
    • Cook JF, Hill DF, Snively BM, et al. Cognitive impairment in rapid-onset dystonia-parkinsonism. Mov Disord 2014; 29:344-350.
    • (2014) Mov Disord , vol.29 , pp. 344-350
    • Cook, J.F.1    Hill, D.F.2    Snively, B.M.3
  • 51
    • 84867512555 scopus 로고    scopus 로고
    • Psychiatric disorders in rapid-onset dystonia-parkinsonism
    • Brashear A, Cook JF, Hill DF, et al. Psychiatric disorders in rapid-onset dystonia-parkinsonism. Neurology 2012; 79:1168-1173.
    • (2012) Neurology , vol.79 , pp. 1168-1173
    • Brashear, A.1    Cook, J.F.2    Hill, D.F.3
  • 52
    • 84862183805 scopus 로고    scopus 로고
    • New triggers and nonmotor findings in a family with rapid-onset dystonia-parkinsonism
    • Barbano RL, Hill DF, Snively BM, et al. New triggers and nonmotor findings in a family with rapid-onset dystonia-parkinsonism. Parkinsonism Relat Disord 2012; 18:737-741.
    • (2012) Parkinsonism Relat Disord , vol.18 , pp. 737-741
    • Barbano, R.L.1    Hill, D.F.2    Snively, B.M.3
  • 53
    • 84896363905 scopus 로고    scopus 로고
    • Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet
    • [Epub ahead of print]
    • Ulate-Campos A, Fons C, Artuch R, et al. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. Pediatr Neurol 2013; 50:377-379. [Epub ahead of print]
    • (2013) Pediatr Neurol , vol.50 , pp. 377-379
    • Ulate-Campos, A.1    Fons, C.2    Artuch, R.3
  • 54
    • 84924288629 scopus 로고    scopus 로고
    • Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood
    • [Epub ahead of print]
    • Roubergue A, Philibert B, Gautier A, et al. Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. JIMD Rep 2014. [Epub ahead of print]
    • (2014) JIMD Rep
    • Roubergue, A.1    Philibert, B.2    Gautier, A.3
  • 55
    • 84892550770 scopus 로고    scopus 로고
    • Asystole in alternating hemiplegia with de novo ATP1A3 mutation
    • Novy J, McWilliams E, Sisodiya SM. Asystole in alternating hemiplegia with de novo ATP1A3 mutation. Eur J Med Genet 2014; 57:37-39.
    • (2014) Eur J Med Genet , vol.57 , pp. 37-39
    • Novy, J.1    McWilliams, E.2    Sisodiya, S.M.3
  • 56
    • 84896854601 scopus 로고    scopus 로고
    • A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
    • doi: 10.1186/1750-1172-9-15
    • Demos MK, van Karnebeek CD, Ross CJ, et al. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis 2014; 9:15. doi: 10.1186/1750-1172-9-15.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 15
    • Demos, M.K.1    Van Karnebeek, C.D.2    Ross, C.J.3
  • 57
    • 84895757872 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in alternating hemiplegia of childhood
    • Sasaki M, Ishii A, Saito Y, et al. Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology 2014; 82:482-490.
    • (2014) Neurology , vol.82 , pp. 482-490
    • Sasaki, M.1    Ishii, A.2    Saito, Y.3
  • 58
    • 78650254882 scopus 로고    scopus 로고
    • Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain
    • Bøttger P, Tracz Z, Heuck A, et al. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain. J Comp Neurol 2011; 519:376-404.
    • (2011) J Comp Neurol , vol.519 , pp. 376-404
    • Bøttger, P.1    Tracz, Z.2    Heuck, A.3
  • 60
    • 84902162103 scopus 로고    scopus 로고
    • Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
    • doi: 10.1002/mds.25791. [Epub ahead of print]
    • Lohmann K, Schmidt A, Schillert A, et al. Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? Mov Disord 2013. doi: 10.1002/mds.25791. [Epub ahead of print]
    • (2013) Mov Disord
    • Lohmann, K.1    Schmidt, A.2    Schillert, A.3
  • 61
    • 84894278971 scopus 로고    scopus 로고
    • Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
    • Mok KY, Schneider SA, Trabzuni D, et al. Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord 2014; 29:245-251.
    • (2014) Mov Disord , vol.29 , pp. 245-251
    • Mok, K.Y.1    Schneider, S.A.2    Trabzuni, D.3
  • 62
    • 84876466626 scopus 로고    scopus 로고
    • Extragenetic factors and clinical penetrance of DYT1 dystonia: An exploratory study
    • Martino D, Gajos A, Gallo V, et al. Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study. J Neurol 2013; 260:1081-1086.
    • (2013) J Neurol , vol.260 , pp. 1081-1086
    • Martino, D.1    Gajos, A.2    Gallo, V.3
  • 63
    • 46749093820 scopus 로고    scopus 로고
    • Stereotactic MRI in DYT1 dystonia: Focal signal abnormalities in the basal ganglia do not contraindicate deep brain stimulation
    • Gavarini S, Vayssiè re N, Delort P, et al. Stereotactic MRI in DYT1 dystonia: focal signal abnormalities in the basal ganglia do not contraindicate deep brain stimulation. Stereotact Funct Neurosurg 2008; 86:245-252.
    • (2008) Stereotact Funct Neurosurg , vol.86 , pp. 245-252
    • Gavarini, S.1    Vayssiè Re, N.2    Delort, P.3
  • 64
    • 84880815904 scopus 로고    scopus 로고
    • Medical treatment of dystonia
    • Jankovic J. Medical treatment of dystonia. Mov Disord 2013; 28:1001-1012.
    • (2013) Mov Disord , vol.28 , pp. 1001-1012
    • Jankovic, J.1
  • 65
    • 79959336839 scopus 로고    scopus 로고
    • Inclusion and exclusion criteria for DBS in dystonia
    • Bronte-Stewart H, Taira T, Valldeoriola F, et al. Inclusion and exclusion criteria for DBS in dystonia. Mov Disord 2011; 26 (Suppl 1):S5-S16.
    • (2011) Mov Disord , vol.26 , Issue.SUPPL. 1
    • Bronte-Stewart, H.1    Taira, T.2    Valldeoriola, F.3
  • 66
    • 84869144640 scopus 로고    scopus 로고
    • Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial
    • Volkmann J, Wolters A, Kupsch A, et al. Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. Lancet Neurol 2012; 11:1029-1038.
    • (2012) Lancet Neurol , vol.11 , pp. 1029-1038
    • Volkmann, J.1    Wolters, A.2    Kupsch, A.3
  • 67
    • 84878537798 scopus 로고    scopus 로고
    • Long disease duration interferes with therapeutic effect of globus pallidus internus pallidal stimulation in primary cervical dystonia
    • Yamada K, Hamasaki T, Hasegawa Y, Kuratsu J. Long disease duration interferes with therapeutic effect of globus pallidus internus pallidal stimulation in primary cervical dystonia. Neuromodulation 2013; 16:219-225.
    • (2013) Neuromodulation , vol.16 , pp. 219-225
    • Yamada, K.1    Hamasaki, T.2    Hasegawa, Y.3    Kuratsu, J.4
  • 68
    • 84874853734 scopus 로고    scopus 로고
    • Bilateral pallidal stimulation in cervical dystonia: Blinded evidence of benefit beyond 5 years
    • Walsh RA, Sidiropoulos C, Lozano AM, et al. Bilateral pallidal stimulation in cervical dystonia: blinded evidence of benefit beyond 5 years. Brain 2013; 136 (Pt 3):761-769.
    • (2013) Brain , vol.136 , Issue.PART 3 , pp. 761-769
    • Walsh, R.A.1    Sidiropoulos, C.2    Lozano, A.M.3
  • 69
    • 78649630624 scopus 로고    scopus 로고
    • Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes
    • Andrews C, Aviles-Olmos I, Hariz M, Foltynie T. Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. J Neurol Neurosurg Psychiatry 2010; 81:1383-1389.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 1383-1389
    • Andrews, C.1    Aviles-Olmos, I.2    Hariz, M.3    Foltynie, T.4
  • 70
    • 84864264958 scopus 로고    scopus 로고
    • Shorter disease duration correlates with improved long-term deep brain stimulation outcomes in young-onset DYT1 dystonia
    • Markun LC, Starr PA, Air EL, et al. Shorter disease duration correlates with improved long-term deep brain stimulation outcomes in young-onset DYT1 dystonia. Neurosurgery 2012; 71:325-330.
    • (2012) Neurosurgery , vol.71 , pp. 325-330
    • Markun, L.C.1    Starr, P.A.2    Air, E.L.3
  • 71
    • 77958578230 scopus 로고    scopus 로고
    • Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
    • Zittel S, Moll CK, Brüggemann N, et al. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010; 25:2405-2412.
    • (2010) Mov Disord , vol.25 , pp. 2405-2412
    • Zittel, S.1    Moll, C.K.2    Brüggemann, N.3
  • 72
    • 77958521426 scopus 로고    scopus 로고
    • DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
    • Groen JL, Ritz K, Contarino MF, et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010; 25:2420-2427.
    • (2010) Mov Disord , vol.25 , pp. 2420-2427
    • Groen, J.L.1    Ritz, K.2    Contarino, M.F.3
  • 74
    • 84875537025 scopus 로고    scopus 로고
    • Surgical treatment of myoclonus dystonia syndrome
    • Rughani AI, Lozano AM. Surgical treatment of myoclonus dystonia syndrome. Mov Disord 2013; 28:282-287.
    • (2013) Mov Disord , vol.28 , pp. 282-287
    • Rughani, A.I.1    Lozano, A.M.2
  • 75
    • 84869210325 scopus 로고    scopus 로고
    • Efficacy and safety of deep brain stimulation in patients with medication-induced tardive dyskinesia and/or dystonia: A systematic review
    • Mentzel CL, Tenback DE, Tijssen MA, et al. Efficacy and safety of deep brain stimulation in patients with medication-induced tardive dyskinesia and/or dystonia: a systematic review. J Clin Psychiatry 2012; 73:1434-1438.
    • (2012) J Clin Psychiatry , vol.73 , pp. 1434-1438
    • Mentzel, C.L.1    Tenback, D.E.2    Tijssen, M.A.3
  • 76
    • 84880792692 scopus 로고    scopus 로고
    • What's new in surgical treatment for dystonia
    • Moro E, Gross RE, Krauss JK. What's new in surgical treatment for dystonia? Mov Disord 2013; 28:1013-1020.
    • (2013) Mov Disord , vol.28 , pp. 1013-1020
    • Moro, E.1    Gross, R.E.2    Krauss, J.K.3


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