메뉴 건너뛰기




Volumn 49, Issue 5, 1997, Pages 1238-1243

Spinocerebellar ataxia type 6: Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRINUCLEOTIDE;

EID: 0030679611     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.5.1238     Document Type: Article
Times cited : (156)

References (30)
  • 1
    • 0027342814 scopus 로고
    • Clinical features and classification of inherited ataxias
    • Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
    • (1993) Adv Neurol , vol.61 , pp. 1-14
    • Harding, A.E.1
  • 2
    • 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. Nat Genet 1993;4:221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.2    Banfi, S.3
  • 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. Nat Genet 1993;4:295-299.
    • (1993) Nat Genet , vol.4 , pp. 295-299
    • Gispert, S.1    Twells, R.2    Orozco, G.3
  • 4
    • 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. Nat Genet 1994;8:221-228.
    • (1994) Nat Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 5
    • 0028911758 scopus 로고
    • Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus
    • Twist EC, Casaubon LK, Ruttledge MH, et al. Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet 1995;32: 25-31.
    • (1995) J Med Genet , vol.32 , pp. 25-31
    • Twist, E.C.1    Casaubon, L.K.2    Ruttledge, M.H.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. Nat Genet 1994;8:280-284.
    • (1994) Nat 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
  • 8
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
    • Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;10:84-88.
    • (1995) Nat Genet , vol.10 , pp. 84-88
    • Benomar, A.1    Krols, L.2    Stevanin, G.3
  • 9
    • 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. Nat Genet 1995;10:89-93.
    • (1995) Nat Genet , vol.10 , pp. 89-93
    • Gouw, L.G.1    Kaplan, C.D.2    Haines, J.H.3
  • 10
    • 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. Nat Genet 1994;6:14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 11
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 12
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst S-M, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.-M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 13
    • 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. Nat Genet 1996;14:277-284.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 14
    • 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. Nat Genet 1996;14:285-291.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 16
    • 0028265531 scopus 로고
    • H locus using non-repetitive intergenic probes and repetitive sequence probes: Evidence for recent reshuffling
    • H locus using non-repetitive intergenic probes and repetitive sequence probes: evidence for recent reshuffling. J Immunol 1994;152:660-666.
    • (1994) J Immunol , vol.152 , pp. 660-666
    • Matsumura, R.1    Matsuda, F.2    Nagaoka, H.3
  • 19
    • 0030052699 scopus 로고    scopus 로고
    • Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
    • Elliott MA, Peroutka SJ, Welch S, Eugene EF. Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. Ann Neurol 1996;39:100-106.
    • (1996) Ann Neurol , vol.39 , pp. 100-106
    • Elliott, M.A.1    Peroutka, S.J.2    Welch, S.3    Eugene, E.F.4
  • 20
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
    • Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997;41:8-16.
    • (1997) Ann Neurol , vol.41 , pp. 8-16
    • Baloh, R.W.1    Yue, Q.2    Furman, J.M.3    Nelson, S.F.4
  • 21
    • 0030200658 scopus 로고    scopus 로고
    • The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease
    • Matsumura R, Takayanagi T, Fujimoto Y, et al. The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease. J Neurol Sci 1996;139:52-57.
    • (1996) J Neurol Sci , vol.139 , pp. 52-57
    • Matsumura, R.1    Takayanagi, T.2    Fujimoto, Y.3
  • 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
    • 0029907590 scopus 로고    scopus 로고
    • Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene
    • Matsumura R, Takayanagi T, Murata K, Futamura N, Hirano M, Ueno S. Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene. Hum Genet 1996;98:643-645.
    • (1996) Hum Genet , vol.98 , pp. 643-645
    • Matsumura, R.1    Takayanagi, T.2    Murata, K.3    Futamura, N.4    Hirano, M.5    Ueno, S.6
  • 24
    • 0030047191 scopus 로고    scopus 로고
    • Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: A variant nucleotide is associated with the number of CAG repeats
    • Limprasert P, Nouri N, Heyman RA, et al. Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats. Hum Mol Genet 1996;5:207-213.
    • (1996) Hum Mol Genet , vol.5 , pp. 207-213
    • Limprasert, P.1    Nouri, N.2    Heyman, R.A.3
  • 25
    • 2442761245 scopus 로고    scopus 로고
    • Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat
    • Igarashi S, Takiyama Y, Cancel G, et al. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet 1996;5: 923-932.
    • (1996) Hum Mol Genet , vol.5 , pp. 923-932
    • Igarashi, S.1    Takiyama, Y.2    Cancel, G.3
  • 26
    • 0027297703 scopus 로고
    • Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
    • Li S-H, Mclnnis MG, Margolis RL, Antonarakis SE, Ross CA. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 1993;16: 572-579.
    • (1993) Genomics , vol.16 , pp. 572-579
    • Li, S.-H.1    Mclnnis, M.G.2    Margolis, R.L.3    Antonarakis, S.E.4    Ross, C.A.5
  • 27
    • 0029009456 scopus 로고
    • Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
    • Takiyama Y, Igarashi S, Rogaeva EA, et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995;4:1137-1146.
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeva, E.A.3
  • 28
    • 0029864225 scopus 로고    scopus 로고
    • Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
    • Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N. Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet 1996;4:3-7.
    • (1996) Eur J Hum Genet , vol.4 , pp. 3-7
    • Lerer, I.1    Merims, D.2    Abeliovich, D.3    Zlotogora, J.4    Gadoth, N.5
  • 29
    • 0029431673 scopus 로고
    • Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?
    • Sato K, Kashihara K, Okada S, et al. Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy? Neurology 1995;45:1934-1936.
    • (1995) Neurology , vol.45 , pp. 1934-1936
    • Sato, K.1    Kashihara, K.2    Okada, S.3
  • 30
    • 0028316870 scopus 로고
    • A worldwide study of the Huntington's disease mutation. the sensitivity and specificity of measuring CAG repeats
    • Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994;330: 1401-1406.
    • (1994) N Engl J Med , vol.330 , pp. 1401-1406
    • Kremer, B.1    Goldberg, P.2    Andrew, S.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.