메뉴 건너뛰기




Volumn 25, Issue 14, 2010, Pages 2420-2427

DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation

Author keywords

Deep brain stimulation; DYT6; Genetic screening; THAP1

Indexed keywords

NUCLEAR PROTEIN; NUCLEAR PROTEIN THAP1; UNCLASSIFIED DRUG;

EID: 77958521426     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23285     Document Type: Article
Times cited : (92)

References (29)
  • 1
    • 0023675531 scopus 로고
    • Concept and classification of dystonia
    • Fahn S. Concept and classification of dystonia. Adv Neurol 1988; 50: 1-8.
    • (1988) Adv Neurol , vol.50 , pp. 1-8
    • Fahn, S.1
  • 3
    • 67749110057 scopus 로고    scopus 로고
    • The monogenic primary dystonias
    • Muller U. The monogenic primary dystonias. Brain 2009; 132: 2005-2025.
    • (2009) Brain , vol.132 , pp. 2005-2025
    • Muller, U.1
  • 4
    • 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: 40-48.
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.J.1    Hewett, J.W.2    Page, C.E.3
  • 5
    • 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 2009; 41: 286-288.
    • (2009) Nat Genet , vol.41 , pp. 286-288
    • Fuchs, T.1    Gavarini, S.2    Saunders-Pullman, R.3
  • 6
    • 77949372189 scopus 로고    scopus 로고
    • THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
    • Houlden H, Schneider SA, Paudel R, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010; 74: 846-850.
    • (2010) Neurology , vol.74 , pp. 846-850
    • Houlden, H.1    Schneider, S.A.2    Paudel, R.3
  • 7
    • 73949087195 scopus 로고    scopus 로고
    • Mutation screening of the DYT6/THAP1 gene in Italy
    • Bonetti M, Barzaghi C, Brancati F, et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009; 24: 2424-2427.
    • (2009) Mov Disord , vol.24 , pp. 2424-2427
    • Bonetti, M.1    Barzaghi, C.2    Brancati, F.3
  • 8
    • 73949091414 scopus 로고    scopus 로고
    • Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia
    • Paisan-Ruiz C, Ruiz-Martinez J, Ruibal M, et al. Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. Mov Disord 2009; 24: 2428-2429.
    • (2009) Mov Disord , vol.24 , pp. 2428-2429
    • Paisan-Ruiz, C.1    Ruiz-Martinez, J.2    Ruibal, M.3
  • 9
    • 74949103804 scopus 로고    scopus 로고
    • Novel THAP1 sequence variants in primary dystonia
    • Xiao J, Zhao Y, Bastian RW, et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010; 74: 229-238.
    • (2010) Neurology , vol.74 , pp. 229-238
    • Xiao, J.1    Zhao, Y.2    Bastian, R.W.3
  • 11
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
    • Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009; 8: 447-452.
    • (2009) Lancet Neurol , vol.8 , pp. 447-452
    • Djarmati, A.1    Schneider, S.A.2    Lohmann, K.3
  • 12
    • 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 JL, et al. Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study. Lancet Neurol 2007; 6: 223-229.
    • (2007) Lancet Neurol , vol.6 , pp. 223-229
    • Vidailhet, M.1    Vercueil, L.2    Houeto, J.L.3
  • 13
    • 0142135448 scopus 로고    scopus 로고
    • An epidemiologic survey of dystonia within the entire population of northeast England over the past nine years
    • Butler AG, Duffey PO, Hawthorne MR, Barnes MP. An epidemiologic survey of dystonia within the entire population of northeast England over the past nine years. Adv Neurol 2004; 94: 95-99.
    • (2004) Adv Neurol , vol.94 , pp. 95-99
    • Butler, A.G.1    Duffey, P.O.2    Hawthorne, M.R.3    Barnes, M.P.4
  • 14
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40: 695-701.
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 17
    • 0019903999 scopus 로고
    • Writers' cramp-a focal dystonia
    • Sheehy MP, Marsden CD. Writers' cramp-a focal dystonia. Brain 1982; 105 (Part 3): 461-480.
    • (1982) Brain , vol.105 , Issue.PART 3 , pp. 461-480
    • Sheehy, M.P.1    Marsden, C.D.2
  • 19
    • 0000170999 scopus 로고    scopus 로고
    • Therapy with botulinum toxin
    • In, Jankovic JHM, editors., 1994 ed., New York, Marcel Dekker Inc.;, p
    • Consky E, Lang AE. Clinical assessments of patients with cervical dystonia. In: Jankovic JHM, editors. Therapy with botulinum toxin, 1994 ed. New York: Marcel Dekker Inc.; 2009. p 211-237.
    • (2009) Clinical assessments of patients with cervical dystonia , pp. 211-237
    • Consky, E.1    Lang, A.E.2
  • 21
    • 18744396089 scopus 로고    scopus 로고
    • The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity
    • Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard JP. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. Proc Natl Acad Sci USA 2005; 102: 6907-6912.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 6907-6912
    • Clouaire, T.1    Roussigne, M.2    Ecochard, V.3    Mathe, C.4    Amalric, F.5    Girard, J.P.6
  • 22
    • 42949166400 scopus 로고    scopus 로고
    • Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways
    • Bessiere D, Lacroix C, Campagne S, et al. Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways. J Biol Chem 2008; 283: 4352-4363.
    • (2008) J Biol Chem , vol.283 , pp. 4352-4363
    • Bessiere, D.1    Lacroix, C.2    Campagne, S.3
  • 23
    • 0038330739 scopus 로고    scopus 로고
    • THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies
    • Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard JP. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003; 22: 2432-2442.
    • (2003) Oncogene , vol.22 , pp. 2432-2442
    • Roussigne, M.1    Cayrol, C.2    Clouaire, T.3    Amalric, F.4    Girard, J.P.5
  • 24
    • 33846504706 scopus 로고    scopus 로고
    • A "silent" polymorphism in the MDR1 gene changes substrate specificity
    • Kimchi-Sarfaty C, Oh JM, Kim IW, et al. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007; 315: 525-528.
    • (2007) Science , vol.315 , pp. 525-528
    • Kimchi-Sarfaty, C.1    Oh, J.M.2    Kim, I.W.3
  • 25
    • 64849114915 scopus 로고    scopus 로고
    • Coding-sequence determinants of gene expression in Escherichia coli
    • Kudla G, Murray AW, Tollervey D, Plotkin JB. Coding-sequence determinants of gene expression in Escherichia coli. Science 2009; 324: 255-258.
    • (2009) Science , vol.324 , pp. 255-258
    • Kudla, G.1    Murray, A.W.2    Tollervey, D.3    Plotkin, J.B.4
  • 28
    • 19944430215 scopus 로고    scopus 로고
    • Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia
    • Vidailhet M, Vercueil L, Houeto JL, et al. Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia. N Engl J Med 2005; 352: 459-467.
    • (2005) N Engl J Med , vol.352 , pp. 459-467
    • Vidailhet, M.1    Vercueil, L.2    Houeto, J.L.3
  • 29
    • 0034709686 scopus 로고    scopus 로고
    • Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus
    • Coubes P, Roubertie A, Vayssiere N, Hemm S, Echenne B. Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus. Lancet 2000; 355: 2220-2221.
    • (2000) Lancet , vol.355 , pp. 2220-2221
    • Coubes, P.1    Roubertie, A.2    Vayssiere, N.3    Hemm, S.4    Echenne, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.