메뉴 건너뛰기




Volumn 41, Issue 4, 1997, Pages 505-511

Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral-pallidoluysian atrophy, Machado- Joseph disease, and spinocerebellar ataxia type 1

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

EID: 0030936576     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410414     Document Type: Article
Times cited : (55)

References (30)
  • 1
    • 0028859878 scopus 로고
    • Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
    • Rosenberg RM. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995;45:l-5
    • (1995) Neurology , vol.45
    • Rosenberg, R.M.1
  • 2
    • 0017389522 scopus 로고
    • Spinocerebellar ataxia and HLA linkage: Risk prediction by HLA typing
    • Jackson JF, Currier MD, Terasaki PI, Morton NE, Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med 1977;296:1138-1141
    • (1977) N Engl J Med , vol.296 , pp. 1138-1141
    • Jackson, J.F.1    Currier, M.D.2    Terasaki, P.I.3    Morton, N.E.4
  • 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 I4q
    • Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome I4q. Nature Genet 1993;4:300-304
    • (1993) Nature Genet , vol.4 , pp. 300-304
    • Takiyama, Y.1    Nishizawa, M.2    Tanaka, H.3
  • 5
    • 0001172320 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred
    • Abstract
    • Gardner K, Alderson K, Galster B, et al. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 1994;44(suppl 2):A361 (Abstract)
    • (1994) Neurology , vol.44 , Issue.SUPPL. 2
    • Gardner, K.1    Alderson, K.2    Galster, B.3
  • 6
    • 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, et al. 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
    • Lpw, R.1    Schut, L.J.2    Lundgren, J.K.3
  • 7
    • 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). Nature Genet 1994;6:9-13
    • (1994) Nature Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 8
    • 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
  • 9
    • 0029031694 scopus 로고
    • The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3pl2-21.1
    • Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3pl2-21.1. 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 spinocerebeller ataxia mapping to chromosome 3p
    • Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebeller 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
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene from Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene from 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
  • 13
    • 0027480960 scopus 로고
    • 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
  • 14
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 15
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu Y-H, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.-H.1    Kuhl, D.P.A.2    Pizzuti, A.3
  • 16
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
    • Jansen G, Willems P, Coerwinkel M, et al. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-585
    • (1994) Am J Hum Genet , vol.54 , pp. 575-585
    • Jansen, G.1    Willems, P.2    Coerwinkel, M.3
  • 17
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
    • Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet 1994;6:409-414
    • (1994) Nature Genet , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3
  • 18
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong SS, McCall AE, Cota J, et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1995;10:344-350
    • (1995) Nature Genet , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3
  • 19
    • 0028916306 scopus 로고
    • Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
    • Ueno S, Kondoh K, Kotani Y, et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet 1995;4:663-666
    • (1995) Hum Mol Genet , vol.4 , pp. 663-666
    • Ueno, S.1    Kondoh, K.2    Kotani, Y.3
  • 20
    • 0029988921 scopus 로고    scopus 로고
    • Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability
    • Takano H, Onodera O, Takahashi H, et al. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 1996;58:1212-1222
    • (1996) Am J Hum Genet , vol.58 , pp. 1212-1222
    • Takano, H.1    Onodera, O.2    Takahashi, H.3
  • 21
    • 25344471075 scopus 로고    scopus 로고
    • Somatic mosaicism of the CAG repeat length in brain specimens of spinocerebellar ataxia type 1 and Machado-Joseph disease
    • Maciel P, Lopes-Cendes I, Caspar C, et al. Somatic mosaicism of the CAG repeat length in brain specimens of spinocerebellar ataxia type 1 and Machado-Joseph disease. Neurology 1996;46(suppl):A330
    • (1996) Neurology , vol.46 , Issue.SUPPL.
    • Maciel, P.1    Lopes-Cendes, I.2    Caspar, C.3
  • 22
    • 1842295009 scopus 로고
    • Studies on neurotransmitter markers in dentatorubropallidoluysian atrophy, with special reference to the relationship between those markers and neuronal cell density in the cerebellar and the basal ganglial system (Jpn)
    • Nakanishi N, Iwabuchi K, Murakami N, et al. Studies on neurotransmitter markers in dentatorubropallidoluysian atrophy, with special reference to the relationship between those markers and neuronal cell density in the cerebellar and the basal ganglial system (Jpn). Adv Neurol Sci (Tokyo) 1990;34:156-165
    • (1990) Adv Neurol Sci (Tokyo) , vol.34 , pp. 156-165
    • Nakanishi, N.1    Iwabuchi, K.2    Murakami, N.3
  • 24
    • 0027297703 scopus 로고
    • Novel triplet repeat containing genes in human brain: Cloning, expression and length polymorphisms
    • Li S-H, Mclnnis MG, Margolis RL, et al. 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
  • 25
    • 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
  • 26
    • 0029044667 scopus 로고
    • Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
    • Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995;37:769-775
    • (1995) Ann Neurol , vol.37 , pp. 769-775
    • Ikeuchi, T.1    Koide, R.2    Tanaka, H.3
  • 27
    • 0029042742 scopus 로고
    • Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
    • Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812
    • (1995) Hum Mol Genet , vol.4 , pp. 807-812
    • Maruyama, H.1    Nakamura, S.2    Matsuyama, Z.3
  • 28
    • 0029009456 scopus 로고
    • Evidence for intergenerational 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 intergenerational 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
  • 29
    • 0015384685 scopus 로고
    • Postnatal development of the cerebellar cortex in rat. III. Maturation of the components of the granular layer
    • Altman J. Postnatal development of the cerebellar cortex in rat. III. Maturation of the components of the granular layer. J Comp Neurol 1972;145:465-514
    • (1972) J Comp Neurol , vol.145 , pp. 465-514
    • Altman, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.