메뉴 건너뛰기




Volumn 54, Issue 9, 1997, Pages 1073-1080

Spinocerebellar ataxia type 2: Genotype and phenotype in German kindreds

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CEREBELLAR ATAXIA; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 15444348424     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.1997.00550210011007     Document Type: Article
Times cited : (119)

References (49)
  • 3
    • 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, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 1993;4:295-299.
    • (1993) Nature Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3
  • 4
    • 0027279503 scopus 로고
    • The gene for Machado-Joseph disease maps to human chromosome 14q
    • Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 1993;4:300-303.
    • (1993) Nature Genet , vol.4 , pp. 300-303
    • Takiyama, Y.1    Nishizawa, M.2    Tanaka, H.3
  • 5
    • 0028157908 scopus 로고
    • A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
    • Stevanin G, Le Guern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet. 1994;54:11 -20.
    • (1994) Am J Hum Genet , vol.54 , pp. 11-20
    • Stevanin, G.1    Le Guern, E.2    Ravise, N.3
  • 6
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996;59:392-399.
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3
  • 7
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet. 1994;8:280-284.
    • (1994) Nature Genet , vol.8 , pp. 280-284
    • Ranum, L.P.W.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 9
    • 0029031694 scopus 로고
    • The gene for autosomal dominant ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
    • Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet. 1995;10:84-88.
    • (1995) Nature Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3
  • 10
    • 0029048660 scopus 로고
    • Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
    • Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet. 1995;10:89-93.
    • (1995) Nature Genet , vol.10 , pp. 89-93
    • Gouw, L.G.1    Kaplan, C.D.2    Haines, J.H.3
  • 11
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 1993;4:221-226.
    • (1993) Nature Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 12
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 1996; 14:269-276.
    • (1996) Nature Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 13
    • 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, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 1996;14:285-291.
    • (1996) Nature Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 14
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 1996;14:277-284.
    • (1996) Nature Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 15
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 1994;8:221-228.
    • (1994) Nature Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 16
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 17
    • 0000723251 scopus 로고
    • The Huntington's disease collaborative research group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's disease collaborative research group: a novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 18
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeucni T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 1994;6:9-13.
    • (1994) Nature Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeucni, T.2    Onodera, O.3
  • 19
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 1994;6:14-18.
    • (1994) Nature Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 20
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • Chung M, Ranum LPW, Duvick LA, Servadio A, Zoghbi Y, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 1993;5:254-258.
    • (1993) Nature Genet , vol.5 , pp. 254-258
    • Chung, M.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, Y.5    Orr, H.T.6
  • 22
    • 0028815025 scopus 로고
    • DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
    • Komure O, Sano A, Nishino N, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology. 1995;45:143-149.
    • (1995) Neurology , vol.45 , pp. 143-149
    • Komure, O.1    Sano, A.2    Nishino, N.3
  • 23
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet. 1992;2:301-304.
    • (1992) Nature Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.B.2    Harding, A.E.3
  • 24
    • 0027240431 scopus 로고
    • Trinucleotide repeat instability and age of onset in Huntington's disease
    • Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat instability and age of onset in Huntington's disease. Nature Genet. 1993;4:387-392.
    • (1993) Nature Genet , vol.4 , pp. 387-392
    • Duyao, M.1    Ambrose, C.2    Myers, R.3
  • 25
    • 0024997225 scopus 로고
    • Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
    • Orozco G, Nodarse Fleites A, Cordovés Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology. 1990;40:1369-1375.
    • (1990) Neurology , vol.40 , pp. 1369-1375
    • Orozco, G.1    Nodarse Fleites, A.2    Cordovés Sagaz, R.3    Auburger, G.4
  • 26
    • 0025350263 scopus 로고
    • Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban founder-effect population
    • Auburger G, Orozco G, Capote RF, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet. 1990;46:1163-1177.
    • (1990) Am J Hum Genet , vol.46 , pp. 1163-1177
    • Auburger, G.1    Orozco, G.2    Capote, R.F.3
  • 27
    • 0028953843 scopus 로고
    • Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-24.1
    • Hernandez A, Magarino C, Gispert S, et al. Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-24.1. Genomics. 1995;25:433-435.
    • (1995) Genomics , vol.25 , pp. 433-435
    • Hernandez, A.1    Magarino, C.2    Gispert, S.3
  • 28
    • 0029045392 scopus 로고
    • The spinocerebellar ataxia 2 locus is located within a 3-cm interval on chromosome 12q23-24.1
    • Allotey R, Twells R, Cemal C, et al. The spinocerebellar ataxia 2 locus is located within a 3-cm interval on chromosome 12q23-24.1. Am J Hum Genet. 1995;57:185-189.
    • (1995) Am J Hum Genet , vol.57 , pp. 185-189
    • Allotey, R.1    Twells, R.2    Cemal, C.3
  • 29
    • 0028901773 scopus 로고
    • Has spinocerebellar ataxia type 2 a distinct phenotype? genetic and clinical study of an Italian family
    • Filla A, De Michele G, Banfi S, et al. Has spinocerebellar ataxia type 2 a distinct phenotype? genetic and clinical study of an Italian family. Neurology. 1995;45:793-796.
    • (1995) Neurology , vol.45 , pp. 793-796
    • Filla, A.1    De Michele, G.2    Banfi, S.3
  • 30
    • 0028138380 scopus 로고
    • Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: Linkage studies of two pedigrees and evidence for the disease locus on chromosome 12q
    • Ihara T. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage studies of two pedigrees and evidence for the disease locus on chromosome 12q. Jap J Hum Genet. 1994;39:305-313.
    • (1994) Jap J Hum Genet , vol.39 , pp. 305-313
    • Ihara, T.1
  • 31
    • 0028215542 scopus 로고
    • Confirmation of the SCA2-locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
    • Lopes-Cendes I, Andermann E, Attig E, et al. Confirmation of the SCA2-locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am J Hum Genet. 1994;54:774-781.
    • (1994) Am J Hum Genet , vol.54 , pp. 774-781
    • Lopes-Cendes, I.1    Andermann, E.2    Attig, E.3
  • 32
    • 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, et al. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology. 1994;44:1423-1426.
    • (1994) Neurology , vol.44 , pp. 1423-1426
    • Belal, S.1    Cancel, G.2    Stevanin, G.3
  • 33
    • 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
    • Dürr A, Smadja D, Cancel G, et al. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain. 1995;118:1573-1581.
    • (1995) Brain , vol.118 , pp. 1573-1581
    • Dürr, A.1    Smadja, D.2    Cancel, G.3
  • 35
    • 0024422743 scopus 로고
    • Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: Clinical, neuropathological, and biochemical findings
    • Orozco G, Estrada R, Perry TL, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J Neurol Sci. 1989;93:37-50.
    • (1989) J Neurol Sci , vol.93 , pp. 37-50
    • Orozco, G.1    Estrada, R.2    Perry, T.L.3
  • 36
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 37
    • 0031128793 scopus 로고    scopus 로고
    • SCA2 trinucleotide expansion in German SCA patients
    • Reiss O, Laccone FA, Gispert S, et al. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics. 1997;1:59-64.
    • (1997) Neurogenetics , vol.1 , pp. 59-64
    • Reiss, O.1    Laccone, F.A.2    Gispert, S.3
  • 38
    • 0028824269 scopus 로고
    • Spinocerebellar ataxia type 1 : Clinical and neurophysiological characteristics in German kindreds
    • Schöls L, Riess O, Schôls S, et al. Spinocerebellar ataxia type 1 : clinical and neurophysiological characteristics in German kindreds. Acta Neurol Scand. 1995;92:478-485.
    • (1995) Acta Neurol Scand , vol.92 , pp. 478-485
    • Schöls, L.1    Riess, O.2    Schôls, S.3
  • 39
    • 0028988941 scopus 로고
    • Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia ana occurs most frequently in German SCA patients
    • Schöls L, Vieira-Saecker AMM, Schöls S, Przuntek H, Epplen JT, Riess O. Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia ana occurs most frequently in German SCA patients. Hum Mol Genet. 1995;4:1001-1005.
    • (1995) Hum Mol Genet , vol.4 , pp. 1001-1005
    • Schöls, L.1    Vieira-Saecker, A.M.M.2    Schöls, S.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 40
    • 0017871680 scopus 로고
    • Autosomal dominant system degeneration in Portuguese families of the Azores Islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
    • Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology. 1978;28:703-709.
    • (1978) Neurology , vol.28 , pp. 703-709
    • Coutinho, P.1    Andrade, C.2
  • 41
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer B, Almqvist E, Theilmann J, et al. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet. 1995;57:343-350.
    • (1995) Am J Hum Genet , vol.57 , pp. 343-350
    • Kremer, B.1    Almqvist, E.2    Theilmann, J.3
  • 42
    • 0029006340 scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease
    • Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995;38:68-72.
    • (1995) Ann Neurol , vol.38 , pp. 68-72
    • Matilla, T.1    McCall, A.2    Subramony, S.H.3    Zoghbi, H.Y.4
  • 43
    • 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, et al. 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. 1996;59:16-22.
    • (1996) Am J Hum Genet , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1    Leggo, J.2    Coles, R.3
  • 44
    • 0029089172 scopus 로고
    • When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
    • Ross CA. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron. 1995;15:493-496.
    • (1995) Neuron , vol.15 , pp. 493-496
    • Ross, C.A.1
  • 45
    • 0030294445 scopus 로고    scopus 로고
    • The expanding world of ataxins
    • Zoghbi HY. The expanding world of ataxins. Nature Genet. 1996;14:237-238.
    • (1996) Nature Genet , vol.14 , pp. 237-238
    • Zoghbi, H.Y.1
  • 46
    • 0030058208 scopus 로고    scopus 로고
    • Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
    • Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 1996;13:196-202.
    • (1996) Nature Genet , vol.13 , pp. 196-202
    • Ikeda, H.1    Yamaguchi, M.2    Sugai, S.3    Aze, Y.4    Narumiya, S.5    Kakizuka, A.6
  • 47
    • 0029791355 scopus 로고    scopus 로고
    • Huntington disease: New insights into the relationship between CAG expansion and disease
    • Nasir J, Goldberg VP, Hayden MR. Huntington disease: new insights into the relationship between CAG expansion and disease. Hum Mol Genet. 1996;5:1431-1435.
    • (1996) Hum Mol Genet , vol.5 , pp. 1431-1435
    • Nasir, J.1    Goldberg, V.P.2    Hayden, M.R.3
  • 48
    • 0029163222 scopus 로고
    • SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
    • Burright EN, Clark HB, Servadio A, et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995;82:937-948.
    • (1995) Cell , vol.82 , pp. 937-948
    • Burright, E.N.1    Clark, H.B.2    Servadio, A.3
  • 49
    • 16044373842 scopus 로고    scopus 로고
    • Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    • Mangiarini L, Satnasivam K, Seller M, et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell. 1996;87:493-506.
    • (1996) Cell , vol.87 , pp. 493-506
    • Mangiarini, L.1    Satnasivam, K.2    Seller, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.