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Volumn 60, Issue 4, 1997, Pages 842-850

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

EID: 0030944114     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (227)

References (52)
  • 2
    • 0028025275 scopus 로고
    • Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
    • Belal S, Cancel G, Stevanin G, Hentati F, Khati C, Ben Hamida C, Auburger G, et al (1994) Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 44:1423-1426
    • (1994) Neurology , vol.44 , pp. 1423-1426
    • Belal, S.1    Cancel, G.2    Stevanin, G.3    Hentati, F.4    Khati, C.5    Ben Hamida, C.6    Auburger, G.7
  • 3
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary dystrophy maps to chromosome 3p12-p21.1
    • Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, et al (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary dystrophy maps to chromosome 3p12-p21.1. Nat Genet 10:84-88
    • (1995) Nat Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3    Cancel, G.4    LeGuern, E.5    David, G.6    Ouhabi, H.7
  • 5
    • 0029151475 scopus 로고
    • Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
    • Cancel G, Abbas N, Stevanin G, Durr A, Chneiweiss H, Neri C, Duyckaerts C, et al (1995a) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 57:809-816
    • (1995) Am J Hum Genet , vol.57 , pp. 809-816
    • Cancel, G.1    Abbas, N.2    Stevanin, G.3    Durr, A.4    Chneiweiss, H.5    Neri, C.6    Duyckaerts, C.7
  • 7
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • Chung, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 8
    • 0028877774 scopus 로고
    • Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations
    • Dubourg O, Durr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, et al (1995) Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 37:176-180
    • (1995) Ann Neurol , vol.37 , pp. 176-180
    • Dubourg, O.1    Durr, A.2    Cancel, G.3    Stevanin, G.4    Chneiweiss, H.5    Penet, C.6    Agid, Y.7
  • 9
    • 0029173928 scopus 로고
    • Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: Spinocerebellar ataxia type 2)
    • Durr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y (1995a) Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clin Neurosci 3:12-16
    • (1995) Clin Neurosci , vol.3 , pp. 12-16
    • Durr, A.1    Brice, A.2    Lepage-Lezin, A.3    Cancel, G.4    Smadja, D.5    Vernant, J.C.6    Agid, Y.7
  • 10
    • 0027742974 scopus 로고
    • Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity
    • Durr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, et al (1993) Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 116:1497-1508
    • (1993) Brain , vol.116 , pp. 1497-1508
    • Durr, A.1    Chneiweiss, H.2    Khati, C.3    Stevanin, G.4    Cancel, G.5    Feingold, J.6    Agid, Y.7
  • 11
    • 0029611008 scopus 로고
    • Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
    • Durr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, et al (1995b) Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118:1573-1581
    • (1995) Brain , vol.118 , pp. 1573-1581
    • Durr, A.1    Smadja, D.2    Cancel, G.3    Lezin, A.4    Stevanin, G.5    Mikol, J.6    Bellance, R.7
  • 12
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, et al (1996) Autosomal dominant spinocerebellar ataxia with sensory axonal (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59:392-399
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3    Galster, B.4    Otterud, B.5    Leppert, M.F.6    Kaplan, C.7
  • 13
    • 0029053371 scopus 로고
    • Trinucleotide repeats that expand in human disease form hairpin structures in vitro
    • Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81:533-540
    • (1995) Cell , vol.81 , pp. 533-540
    • Gacy, A.M.1    Goellner, G.2    Juranic, N.3    Macura, S.4    McMurray, C.T.5
  • 14
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, et al (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 4:295-299
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3    Brice, A.4    Weber, J.5    Heredero, L.6    Scheufler, K.7
  • 15
    • 0028882406 scopus 로고
    • Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth
    • Giunti P, Sweeney MG, Harding AE (1995) Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 118:1077-1085
    • (1995) Brain , vol.118 , pp. 1077-1085
    • Giunti, P.1    Sweeney, M.G.2    Harding, A.E.3
  • 17
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias
    • Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. Brain 105:1-28
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 18
    • 0027342814 scopus 로고
    • Clinical features and classification of the inherited ataxias
    • _ (1993) Clinical features and classification of the inherited ataxias. Adv Neurol 61:1-14
    • (1993) Adv Neurol , vol.61 , pp. 1-14
  • 20
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier J-M, Weber C, et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Garnier, J.-M.6    Weber, C.7
  • 21
    • 13344268998 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families
    • Lezin A, Cancel G, Stevanin G, Smadja D, Vernant JC, Durr A, Martial J, et al (1996) Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. Hum Genet 97: 671-676
    • (1996) Hum Genet , vol.97 , pp. 671-676
    • Lezin, A.1    Cancel, G.2    Stevanin, G.3    Smadja, D.4    Vernant, J.C.5    Durr, A.6    Martial, J.7
  • 24
    • 0029947377 scopus 로고    scopus 로고
    • Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR
    • Maruyama H, Kawakami H, Nakamura S (1996) Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR. Hum Genet 97:591-595
    • (1996) Hum Genet , vol.97 , pp. 591-595
    • Maruyama, H.1    Kawakami, H.2    Nakamura, S.3
  • 25
    • 0028857157 scopus 로고
    • Mechanisms of DNA expansion
    • McMurray CT (1995) Mechanisms of DNA expansion. Chromosoma 104:2-13
    • (1995) Chromosoma , vol.104 , pp. 2-13
    • McMurray, C.T.1
  • 26
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, et al (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3    Shirayama, T.4    Ohsaki, E.5    Bundo, M.6    Takeda, T.7
  • 28
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
    • Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, Auburger G (1990) Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40:1369-1375
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco Diaz, G.1    Nodarse Fleites, A.2    Cordoves Sagaz, R.3    Auburger, G.4
  • 31
    • 0027180211 scopus 로고
    • Anticipation in spinocerebellar ataxia type 2
    • Pulst S-M, Nechiporuk A, Starkman S (1993) Anticipation in spinocerebellar ataxia type 2. Nat Genet 5:8-10
    • (1993) Nat Genet , vol.5 , pp. 8-10
    • Pulst, S.-M.1    Nechiporuk, A.2    Starkman, S.3
  • 32
    • 0028100732 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type 1: Evidence for familial effects on the age at onset
    • Ranum LPW, Chung M-y, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, et al (1994a) Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet 55:244-252
    • (1994) Am J Hum Genet , vol.55 , pp. 244-252
    • Ranum, L.P.W.1    Chung, M.-Y.2    Banfi, S.3    Bryer, A.4    Schut, L.J.5    Ramesar, R.6    Duvick, L.A.7
  • 33
    • 0029134871 scopus 로고
    • Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
    • Ranum LPW, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, et al (1995) Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 57:603-608
    • (1995) Am J Hum Genet , vol.57 , pp. 603-608
    • Ranum, L.P.W.1    Lundgren, J.K.2    Schut, L.J.3    Ahrens, M.J.4    Perlman, S.5    Aita, J.6    Bird, T.D.7
  • 34
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1994b) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 8:280-284
    • (1994) Nat Genet , vol.8 , pp. 280-284
    • Ranum, L.P.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 35
    • 0025050650 scopus 로고
    • Autosomal dominant cerebellar phenotypes: The genotype will settle the issue
    • Rosenberg RN (1990) Autosomal dominant cerebellar phenotypes: the genotype will settle the issue. Neurology 40:1329-1331
    • (1990) Neurology , vol.40 , pp. 1329-1331
    • Rosenberg, R.N.1
  • 36
    • 0028859878 scopus 로고
    • Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
    • _ (1995) Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 45:1-5
    • (1995) Neurology , vol.45 , pp. 1-5
  • 37
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, et al (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 59:16-22
    • (1996) Am J Hum Genet , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1    Leggo, J.2    Coles, R.3    Almqvist, E.4    Biancalana, V.5    Cassiman, J.J.6    Chotai, K.7
  • 38
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the gene for spinocerebellar ataxia type 2 (SCA2) using a direct identification of repeat expansion and cloning technique (DIRECT)
    • Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, et al (1996) Identification of the gene for spinocerebellar ataxia type 2 (SCA2) using a direct identification of repeat expansion and cloning technique (DIRECT). Nat Genet 14:277-284
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6    Wakisaka, A.7
  • 39
    • 0027818325 scopus 로고
    • Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes
    • Sasaki H (1993) Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes. Rinsho Shinkeigaku 33:1285-1287
    • (1993) Rinsho Shinkeigaku , vol.33 , pp. 1285-1287
    • Sasaki, H.1
  • 40
    • 0028988941 scopus 로고
    • Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA
    • Schols L, Vieira-Saecker AM, Schols S, Przuntek H, Epplen JT, Riess O (1995) Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA. Hum Mol Genet 4:1001-1005
    • (1995) Hum Mol Genet , vol.4 , pp. 1001-1005
    • Schols, L.1    Vieira-Saecker, A.M.2    Schols, S.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 41
    • 9344245162 scopus 로고    scopus 로고
    • Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
    • Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, et al (1996) Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 46:214-218
    • (1996) Neurology , vol.46 , pp. 214-218
    • Silveira, I.1    Lopes-Cendes, I.2    Kish, S.3    Maciel, P.4    Gaspar, C.5    Coutinho, P.6    Botez, M.I.7
  • 43
    • 0028787581 scopus 로고
    • Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: Evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation
    • Stevanin G, Cancel G, Didierjean O, Durr A, Abbas N, Cassa E, Feingold J, et al (1995) Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet 57:1247-1250
    • (1995) Am J Hum Genet , vol.57 , pp. 1247-1250
    • Stevanin, G.1    Cancel, G.2    Didierjean, O.3    Durr, A.4    Abbas, N.5    Cassa, E.6    Feingold, J.7
  • 46
    • 85046165653 scopus 로고    scopus 로고
    • Atypical parkinsonism in a family of Portuguese ancestry: Absence of CAG repeat expansion in the MJD1 gene
    • in press
    • Sutton J, Pulst S-M. Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. Neurology (in press)
    • Neurology
    • Sutton, J.1    Pulst, S.-M.2
  • 48
    • 0028972448 scopus 로고
    • Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
    • Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, et al (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378:403-406
    • (1995) Nature , vol.378 , pp. 403-406
    • Trottier, Y.1    Lutz, Y.2    Stevanin, G.3    Imbert, G.4    Devys, D.5    Cancel, G.6    Saudou, F.7
  • 50
  • 51
    • 0028213984 scopus 로고
    • Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom
    • Warner TT, Lennox, GG, Janota I, Harding AE (1994) Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom. Mov Disord 9:289-296
    • (1994) Mov Disord , vol.9 , pp. 289-296
    • Warner, T.T.1    Lennox, G.G.2    Janota, I.3    Harding, A.E.4
  • 52
    • 0029080261 scopus 로고
    • Population genetics of trinucleotide repeat polymorphisms
    • Watkins WS, Bamshad M, Jorde LB (1995) Population genetics of trinucleotide repeat polymorphisms. Hum Mol Genet 4:1485-1491
    • (1995) Hum Mol Genet , vol.4 , pp. 1485-1491
    • Watkins, W.S.1    Bamshad, M.2    Jorde, L.B.3


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