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Volumn 62, Issue 3, 2004, Pages 395-400

Mutations in DYT1: Extension of the phenotypic and mutational spectrum

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NEUROLEPTIC AGENT;

EID: 10744223557     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000113024.84178.F7     Document Type: Article
Times cited : (80)

References (45)
  • 1
    • 0000613043 scopus 로고
    • Classification and investigation of dystonia
    • Marsden CD, Fahn S, eds. London: Butterworths
    • Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In: Marsden CD, Fahn S, eds. Movement disorders 2. London: Butterworths, 1987;332-358.
    • (1987) Movement Disorders 2 , pp. 332-358
    • Fahn, S.1    Marsden, C.D.2    Calne, D.B.3
  • 3
    • 0036311809 scopus 로고    scopus 로고
    • Dystonia: Clinical features, genetics, and treatment
    • Klein C, Ozelius LJ. Dystonia: clinical features, genetics, and treatment. Curr Opin Neurol 2002;15:491-497.
    • (2002) Curr Opin Neurol , vol.15 , pp. 491-497
    • Klein, C.1    Ozelius, L.J.2
  • 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
    • 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;54:1746-1752.
    • (2000) Neurology , vol.54 , pp. 1746-1752
    • Bressman, S.B.1    Sabatti, C.2    Raymond, D.3
  • 6
    • 0031878303 scopus 로고    scopus 로고
    • Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
    • Gasser T, Windgassen K, Bereznai B, et al. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann Neurol 1998;44:126-128.
    • (1998) Ann Neurol , vol.44 , pp. 126-128
    • Gasser, T.1    Windgassen, K.2    Bereznai, B.3
  • 8
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch NJ, De Leon D, Ozelius LJ, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-159.
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.J.1    De Leon, D.2    Ozelius, L.J.3
  • 10
    • 0024457283 scopus 로고
    • Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
    • Bressman SB, De Leon D, Brin MF, et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989;26:612-620.
    • (1989) Ann Neurol , vol.26 , pp. 612-620
    • Bressman, S.B.1    De Leon, D.2    Brin, M.F.3
  • 11
    • 0025349857 scopus 로고
    • Segregation analysis analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
    • Risch NJ, Bressman SB, De Leon D, et al. Segregation analysis analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990;46:533-538.
    • (1990) Am J Hum Genet , vol.46 , pp. 533-538
    • Risch, N.J.1    Bressman, S.B.2    De Leon, D.3
  • 12
    • 18044403431 scopus 로고    scopus 로고
    • Novel mutation in the TOR1 (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    • Leung JC, Klein C, Friedman J, et al. Novel mutation in the TOR1 (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
    • (2001) Neurogenetics , vol.3 , pp. 133-143
    • Leung, J.C.1    Klein, C.2    Friedman, J.3
  • 13
    • 0036826889 scopus 로고    scopus 로고
    • Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
    • Klein C, Liu L, Doheny D, et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol 2002;52: 675-679.
    • (2002) Ann Neurol , vol.52 , pp. 675-679
    • Klein, C.1    Liu, L.2    Doheny, D.3
  • 14
    • 0031956142 scopus 로고    scopus 로고
    • Expression of the early-onset torsion dystonia gene (DYT1) in human brain
    • Augood SJ, Penney JB, Friberg I, et al. Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann Neurol 1998;43: 669-673.
    • (1998) Ann Neurol , vol.43 , pp. 669-673
    • Augood, S.J.1    Penney, J.B.2    Friberg, I.3
  • 15
    • 0032754787 scopus 로고    scopus 로고
    • Distribution of the mRNAs encoding torsinA and torsinB in the adult human brain
    • Augood SJ, Martin DM, Ozelius LJ, et al. Distribution of the mRNAs encoding torsinA and torsinB in the adult human brain. Ann Neurol 1999;46:761-769.
    • (1999) Ann Neurol , vol.46 , pp. 761-769
    • Augood, S.J.1    Martin, D.M.2    Ozelius, L.J.3
  • 16
    • 0034703336 scopus 로고    scopus 로고
    • TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease
    • Shashidharan P, Good PF, Hsu A, et al. TorsinA accumulation in Lewy bodies in sporadic Parkinson's disease. Brain Res 2000;877:379-381.
    • (2000) Brain Res , vol.877 , pp. 379-381
    • Shashidharan, P.1    Good, P.F.2    Hsu, A.3
  • 17
    • 0035404388 scopus 로고    scopus 로고
    • A close association of torsinA and alpha-synuclein in Lewy bodies: A fluorescence resonance energy transfer study
    • Sharma N, Hewett J, Ozelius LJ, et al. A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol 2001;159:339-344.
    • (2001) Am J Pathol , vol.159 , pp. 339-344
    • Sharma, N.1    Hewett, J.2    Ozelius, L.J.3
  • 18
    • 0036846119 scopus 로고    scopus 로고
    • TorsinA and heat shock proteins act as molecular chaperones: Suppression of alpha-synuclein aggregation
    • McLean PJ, Kawamata H, Shariff S, et al. TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation. J Neurochem 2002;83:846-854.
    • (2002) J Neurochem , vol.83 , pp. 846-854
    • McLean, P.J.1    Kawamata, H.2    Shariff, S.3
  • 19
    • 0037072281 scopus 로고    scopus 로고
    • Dopamine transmission in DYT1 dystonia: A biochemical and autoradiagraphical study
    • Augood SJ, Hollingsworth Z, Albers DS, et al. Dopamine transmission in DYT1 dystonia: a biochemical and autoradiagraphical study. Neurology 2002;59:445-448.
    • (2002) Neurology , vol.59 , pp. 445-448
    • Augood, S.J.1    Hollingsworth, Z.2    Albers, D.S.3
  • 20
    • 0033572356 scopus 로고    scopus 로고
    • The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
    • Ozelius LJ, Page CE, Klein C, et al. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 1999;62:377-384.
    • (1999) Genomics , vol.62 , pp. 377-384
    • Ozelius, L.J.1    Page, C.E.2    Klein, C.3
  • 21
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
    • Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
    • (2001) Hum Mol Genet , vol.10 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3
  • 22
    • 0037058754 scopus 로고    scopus 로고
    • Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia
    • Klein C, Hedrich K, Kabakci K, et al. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002b;59:1783-1786.
    • (2002) Neurology , vol.59 , pp. 1783-1786
    • Klein, C.1    Hedrich, K.2    Kabakci, K.3
  • 23
    • 0023784368 scopus 로고
    • A comparison of clinical and pathological features of young- and old-onset Parkinson's disease
    • Gibb WR, Lees AJ. A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. Neurology 1988;38:1402-1406.
    • (1988) Neurology , vol.38 , pp. 1402-1406
    • Gibb, W.R.1    Lees, A.J.2
  • 24
    • 84902405029 scopus 로고    scopus 로고
    • Myoclonus and myoclonus-dystonias
    • Pulst S, ed. Elsevier
    • Klein C. Myoclonus and myoclonus-dystonias. In: Pulst S, ed. Genetics of movement disorders. Elsevier, 2003;451-471.
    • (2003) Genetics of Movement Disorders , pp. 451-471
    • Klein, C.1
  • 25
    • 0033454086 scopus 로고    scopus 로고
    • Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
    • Klein C, Friedman J, Bressman SB, et al. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999;3:323-328.
    • (1999) Genet Test , vol.3 , pp. 323-328
    • Klein, C.1    Friedman, J.2    Bressman, S.B.3
  • 26
    • 0032825414 scopus 로고    scopus 로고
    • A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation
    • Ikeuchi T, Shimohata T, Nakano R, et al. A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 1999;2:189-190.
    • (1999) Neurogenetics , vol.2 , pp. 189-190
    • Ikeuchi, T.1    Shimohata, T.2    Nakano, R.3
  • 27
    • 0036460856 scopus 로고    scopus 로고
    • Late-onset axial jerky dystonia due to the DYT1 deletion
    • Chinnery PF, Reading PJ, McCarthy EL, et al. Late-onset axial jerky dystonia due to the DYT1 deletion. Mov Disord 2002;47:196-198.
    • (2002) Mov Disord , vol.47 , pp. 196-198
    • Chinnery, P.F.1    Reading, P.J.2    McCarthy, E.L.3
  • 28
    • 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; 18:706-711.
    • (2003) Mov Disord , vol.18 , pp. 706-711
    • Edwards, M.1    Wood, N.2    Bhatia, K.3
  • 31
    • 0034702033 scopus 로고    scopus 로고
    • Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
    • Hewett J, Gonzalez-Agosti C, Slater D, et al. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet 2000;22:1403-1413.
    • (2000) Hum Mol Genet , vol.22 , pp. 1403-1413
    • Hewett, J.1    Gonzalez-Agosti, C.2    Slater, D.3
  • 32
    • 0034623158 scopus 로고    scopus 로고
    • Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
    • Kustedjo K, Bracey MH, Cravatt BF. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J Biol Chem 2000;275:27933-27939.
    • (2000) J Biol Chem , vol.275 , pp. 27933-27939
    • Kustedjo, K.1    Bracey, M.H.2    Cravatt, B.F.3
  • 34
    • 0031797115 scopus 로고    scopus 로고
    • The role of DYT1 primary torsion dystonia in Europe
    • Valente EM, Warner TT, Jarman PR, et al. The role of DYT1 primary torsion dystonia in Europe. Brain 1998;121:2335-2339.
    • (1998) Brain , vol.121 , pp. 2335-2339
    • Valente, E.M.1    Warner, T.T.2    Jarman, P.R.3
  • 35
    • 0033435220 scopus 로고    scopus 로고
    • GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
    • Kamm C, Castelon-Konkiewitz E, Naumann M, et al. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov Disord 1999;14:681-683.
    • (1999) Mov Disord , vol.14 , pp. 681-683
    • Kamm, C.1    Castelon-Konkiewitz, E.2    Naumann, M.3
  • 36
    • 0032951850 scopus 로고    scopus 로고
    • DYT1 mutation in French families with idiopathic torsion dystonia
    • Lebre AS, Dürr A, Jedynak P, et al. DYT1 mutation in French families with idiopathic torsion dystonia. Brain 1999;122:41-45.
    • (1999) Brain , vol.122 , pp. 41-45
    • Lebre, A.S.1    Dürr, A.2    Jedynak, P.3
  • 37
    • 0032895322 scopus 로고    scopus 로고
    • Phenotypic variability of the DYT1 mutation in German dystonia patients
    • Leube B, Kessler KR, Ferbert A, et al. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol Scand 1999; 99:248-251.
    • (1999) Acta Neurol Scand , vol.99 , pp. 248-251
    • Leube, B.1    Kessler, K.R.2    Ferbert, A.3
  • 38
    • 0033584562 scopus 로고    scopus 로고
    • A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia
    • Slominsky PA, Markova ED, Shadrina MI, et al. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia. Hum Mutat 1999;14:269.
    • (1999) Hum Mutat , vol.14 , pp. 269
    • Slominsky, P.A.1    Markova, E.D.2    Shadrina, M.I.3
  • 39
    • 0034059944 scopus 로고    scopus 로고
    • Frequency of the DYT1 mutation in primary torsion dystonia without family history
    • Brassat D, Camuzat A, Vidailhet M, et al. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch Neurol 2000;57:333-335.
    • (2000) Arch Neurol , vol.57 , pp. 333-335
    • Brassat, D.1    Camuzat, A.2    Vidailhet, M.3
  • 40
    • 0035788608 scopus 로고    scopus 로고
    • DYT1 mutation in primary torsion dystonia in a Serbian population
    • Major T, Svetel M, Romac S, Kostic VS. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol 2001;248:940-943.
    • (2001) J Neurol , vol.248 , pp. 940-943
    • Major, T.1    Svetel, M.2    Romac, S.3    Kostic, V.S.4
  • 41
    • 0035953154 scopus 로고    scopus 로고
    • DYT1 mutation in Japanese patients with primary torsion dystonia
    • Matsumoto S, Nishimura M, Kaji R, et al. DYT1 mutation in Japanese patients with primary torsion dystonia. Neuroreport 2001;12:793-795.
    • (2001) Neuroreport , vol.12 , pp. 793-795
    • Matsumoto, S.1    Nishimura, M.2    Kaji, R.3
  • 42
    • 0035491320 scopus 로고    scopus 로고
    • No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia
    • Tuffery-Giraud S, Cavalier L, Roubertie A, et al. No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. J Med Genet 2001;38:E35.
    • (2001) J Med Genet , vol.38
    • Tuffery-Giraud, S.1    Cavalier, L.2    Roubertie, A.3
  • 43
    • 0036523711 scopus 로고    scopus 로고
    • Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
    • Opal P, Tintner R, Jankovic J, et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord 2002;17:339-345.
    • (2002) Mov Disord , vol.17 , pp. 339-345
    • Opal, P.1    Tintner, R.2    Jankovic, J.3
  • 44
    • 0036237062 scopus 로고    scopus 로고
    • Inherited and de novo mutations in sporadic cases of DYT1-dystonia
    • Hjermind LE, Werdelin LM, Sorensen SA. Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur J Hum Genet 2002;10:213-216.
    • (2002) Eur J Hum Genet , vol.10 , pp. 213-216
    • Hjermind, L.E.1    Werdelin, L.M.2    Sorensen, S.A.3
  • 45
    • 0036523854 scopus 로고    scopus 로고
    • Frequency of DYT1 mutation in early onset primary dystonia in Italian patients
    • Zorzi G, Garavaglia B, Invernizzi F, et al. Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov Disord 2002; 17:407-408.
    • (2002) Mov Disord , vol.17 , pp. 407-408
    • Zorzi, G.1    Garavaglia, B.2    Invernizzi, F.3


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