메뉴 건너뛰기




Volumn 63, Issue 4, 1998, Pages 1060-1066

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAUCASIAN; DOMINANT INHERITANCE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; HUMAN; JAPAN; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; PEDIGREE; PREVALENCE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 0032231668     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302067     Document Type: Article
Times cited : (197)

References (43)
  • 2
    • 8244220324 scopus 로고    scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
    • Cancel G, Dürr A, Didierjean O, Imbert G, Burk K, Lezin A, Belal S, et al (1997) Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 6:709-715
    • (1997) Hum Mol Genet , vol.6 , pp. 709-715
    • Cancel, G.1    Dürr, A.2    Didierjean, O.3    Imbert, G.4    Burk, K.5    Lezin, A.6    Belal, S.7
  • 3
    • 0042115272 scopus 로고    scopus 로고
    • Contribution of DNA sequence and GAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
    • Chong SS, Almqvist E, Telenius H, La Tray L, Nichol K, Bourdelat-Parks B, Goldberg YP, et al (1997) Contribution of DNA sequence and GAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet 6:301-309
    • (1997) Hum Mol Genet , vol.6 , pp. 301-309
    • Chong, S.S.1    Almqvist, E.2    Telenius, H.3    La Tray, L.4    Nichol, K.5    Bourdelat-Parks, B.6    Goldberg, Y.P.7
  • 6
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular and neuropathological features
    • Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, et al (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 39:490-499
    • (1996) Ann Neurol , vol.39 , pp. 490-499
    • Dürr, A.1    Stevanin, G.2    Cancel, G.3    Duyckaerts, C.4    Abbas, N.5    Didierjean, O.6    Chneiweiss, H.7
  • 7
    • 0029745014 scopus 로고    scopus 로고
    • Strong linkage disequilibrium and haplotype analysis in Japanese pedigree with Machado-Joseph disease
    • Endo K, Sasaki H, Wakisaka A, Tanaka H, Saito M, Igarashi S, Takiyama Y, et al (1996) Strong linkage disequilibrium and haplotype analysis in Japanese pedigree with Machado-Joseph disease. Am J Med Genet 67:437-444
    • (1996) Am J Med Genet , vol.67 , pp. 437-444
    • Endo, K.1    Sasaki, H.2    Wakisaka, A.3    Tanaka, H.4    Saito, M.5    Igarashi, S.6    Takiyama, Y.7
  • 8
    • 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, Galsrer B, Otterud B, Leppert MF, Kaplan C, et al (1996) Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (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    Galsrer, B.4    Otterud, B.5    Leppert, M.F.6    Kaplan, C.7
  • 9
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind DH, Perlman S, Figizeroa CP, Treiman LJ, Pulst SM (1997) The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 60:842-850
    • (1997) Am J Hum Genet , vol.60 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figizeroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 10
    • 0027359989 scopus 로고
    • Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
    • Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Teienius H, et al (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects, Nat Genet 5:174-179
    • (1993) Nat Genet , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Kremer, B.2    Andrew, S.E.3    Theilmann, J.4    Graham, R.K.5    Squitieri, F.6    Teienius, H.7
  • 11
    • 0028882509 scopus 로고
    • Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
    • Goldberg YP, McMurray C, Zeisler J, Almqvist E, Sillence D, Richards F, Gacy AM, et al (1995) Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 4:1911-1918
    • (1995) Hum Mol Genet , vol.4 , pp. 1911-1918
    • Goldberg, Y.P.1    McMurray, C.2    Zeisler, J.3    Almqvist, E.4    Sillence, D.5    Richards, F.6    Gacy, A.M.7
  • 12
    • 0019902437 scopus 로고
    • The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of the Drew family of Walworth
    • Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the Drew family of Walworth. Brain 105:1-28
    • (1982) Brain , vol.105 , pp. 1-28
    • Harding, A.E.1
  • 14
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome
    • Huntington's Disease Collaborative Research Group, The (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 15
    • 0031442152 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: CAG repeat expansion in al A voltage-dependent calcium channel gene and clinical variations in Japanese populations
    • Ikeuchi T, Takano H, Koide R, Horikawa Y, Honma Y, Onishi Y, Igarashi S, et al (1997) Spinocerebellar ataxia type 6: CAG repeat expansion in al A voltage-dependent calcium channel gene and clinical variations in Japanese populations. Ann Neurol 42:879-884
    • (1997) Ann Neurol , vol.42 , pp. 879-884
    • Ikeuchi, T.1    Takano, H.2    Koide, R.3    Horikawa, Y.4    Honma, Y.5    Onishi, Y.6    Igarashi, S.7
  • 17
    • 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 JM, Chantal W, 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    Chantal, W.7
  • 18
    • 16944366032 scopus 로고    scopus 로고
    • Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
    • Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, et al (1997) Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 61:336-346
    • (1997) Am J Hum Genet , vol.61 , pp. 336-346
    • Ishikawa, K.1    Tanaka, H.2    Saito, M.3    Ohkoshi, N.4    Fujita, T.5    Yoshizawa, K.6    Ikeuchi, T.7
  • 20
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3    Tanaka, H.4    Igarashi, S.5    Endo, K.6    Takahashi, H.7
  • 22
    • 0029084074 scopus 로고
    • Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
    • Leeflang EP, Zhang L, Tavare S, Hubert R, Srindhi J, MacDonald ME, Myers RH, et al (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet 4:1519-1526
    • (1995) Hum Mol Genet , vol.4 , pp. 1519-1526
    • Leeflang, E.P.1    Zhang, L.2    Tavare, S.3    Hubert, R.4    Srindhi, J.5    MacDonald, M.E.6    Myers, R.H.7
  • 23
    • 0030668895 scopus 로고    scopus 로고
    • The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
    • Lorenzetti D, Bohlega S, Zoghbi HY (1997) The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 49:1009-1013
    • (1997) Neurology , vol.49 , pp. 1009-1013
    • Lorenzetti, D.1    Bohlega, S.2    Zoghbi, H.Y.3
  • 25
    • 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
    • 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
  • 29
    • 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 (1994) 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.W.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 31
    • 0027982426 scopus 로고
    • Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
    • Rubinsztein DC, Amos W, Leggo J, Goodburn S, Ramesar RS, Old J, Bontrop R, et al (1994) Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 7: 525-530
    • (1994) Nat Genet , vol.7 , pp. 525-530
    • Rubinsztein, D.C.1    Amos, W.2    Leggo, J.3    Goodburn, S.4    Ramesar, R.S.5    Old, J.6    Bontrop, R.7
  • 32
    • 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, Sato T, Oyake M, Sasaki A, Wakisaka A, et al (1996) Identification of the Spinocerebellar ataxia type 2 gene 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, A.6    Wakisaka, A.7
  • 33
    • 0028988941 scopus 로고
    • Trinucleotide expansion within the MJD1 gene presents clinically as Spinocerebellar ataxia and occurs most frequently in German SCA patients
    • Schols L, Vieira-Saecker AMM, 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 patients. Hum Mol Genet 4:1001-1005
    • (1995) Hum Mol Genet , vol.4 , pp. 1001-1005
    • Schols, L.1    Vieira-Saecker, A.M.M.2    Schols, S.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 34
    • 9344245162 scopus 로고    scopus 로고
    • Frequency of Spinocerebellar ataxia type 1, dentatorubralpallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of Spinocerebellar ataxia patients
    • Silveira I, Lopes-Cendes I, Kish S, Maciel P, Caspar C, Coutinho P, Botez MI, et al (1996) Frequency of Spinocerebellar ataxia type 1, dentatorubralpallidoluysian 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    Caspar, C.5    Coutinho, P.6    Botez, M.I.7
  • 35
    • 0028564730 scopus 로고
    • DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reason for geographic variations of prevalence
    • Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisier J, Nichol K, et al (1994) DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reason for geographic variations of prevalence. Hum Mol Genet 3:2103-2114
    • (1994) Hum Mol Genet , vol.3 , pp. 2103-2114
    • Squitieri, F.1    Andrew, S.E.2    Goldberg, Y.P.3    Kremer, B.4    Spence, N.5    Zeisier, J.6    Nichol, K.7
  • 36
    • 0028787581 scopus 로고
    • Linkage disequilibrium at the Machado-Joseph disease/spinocerebellar ataxia type 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, Dürr A, Abbas N, Cassa E, Feingold J, et al (1995) Linkage disequilibrium at the Machado-Joseph disease/spinocerebellar ataxia type 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: 1247-4250
    • (1995) Am J Hum Genet , vol.57 , pp. 1247-4250
    • Stevanin, G.1    Cancel, G.2    Didierjean, O.3    Dürr, A.4    Abbas, N.5    Cassa, E.6    Feingold, J.7
  • 38
    • 0031007352 scopus 로고    scopus 로고
    • Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intrageneic polymorphisms, one of which, X359Y, affects the stop codon
    • Stevanin G, Lebre A-S, Mathieux C, Cancel G, Abbas N, Didierjean O, Dürr A, et al (1997b) Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intrageneic polymorphisms, one of which, X359Y, affects the stop codon. Am J Hum Genet 60: 1548-1552
    • (1997) Am J Hum Genet , vol.60 , pp. 1548-1552
    • Stevanin, G.1    Lebre, A.-S.2    Mathieux, C.3    Cancel, G.4    Abbas, N.5    Didierjean, O.6    Dürr, A.7
  • 39
    • 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, Endo K, Rogaev EI, Tanaka H, Sherrington R, et al (1995) 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 4:1137-1146
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeva, E.A.3    Endo, K.4    Rogaev, E.I.5    Tanaka, H.6    Sherrington, R.7
  • 40
    • 0029121944 scopus 로고
    • Spinocerebellar ataxia (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry
    • Wakisaka A, Sasaki H, Takada A, Fukazawa T, Suzuki Y, Hamada T, Iwabuchi K, et al (1995) Spinocerebellar ataxia (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. J Med Genet 32:590-592
    • (1995) J Med Genet , vol.32 , pp. 590-592
    • Wakisaka, A.1    Sasaki, H.2    Takada, A.3    Fukazawa, T.4    Suzuki, Y.5    Hamada, T.6    Iwabuchi, K.7
  • 42
    • 0027982427 scopus 로고
    • Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene
    • Zhang L, Leeflang EP, Yu J, Arnheinm (1994) Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat Genet 7: 531-535
    • (1994) Nat Genet , vol.7 , pp. 531-535
    • Zhang, L.1    Leeflang, E.P.2    Yu, J.3    Arnheinm4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.