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Volumn 60, Issue 5, 1997, Pages 1202-1210

The likelihood of being affected with huntington disease by a particular age, for a specific CAG size

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COGNITIVE DEFECT; CONTROLLED STUDY; GENE MUTATION; GENETIC RISK; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; NERVE DEGENERATION; NUCLEOTIDE REPEAT; ONSET AGE; PENETRANCE; PRIORITY JOURNAL;

EID: 0030935035     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (323)

References (57)
  • 1
    • 0027176364 scopus 로고
    • The relationship between trinucleotide repeat (CAG) length and clinical features of Huntington disease
    • Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, et al (1993) The relationship between trinucleotide repeat (CAG) length and clinical features of Huntington disease. Nat Genet 4:398-403
    • (1993) Nat Genet , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3    Telenius, H.4    Theilmann, J.5    Adam, S.6    Starr, E.7
  • 2
    • 0028177342 scopus 로고
    • A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
    • Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3: 65-67
    • (1994) Hum Mol Genet , vol.3 , pp. 65-67
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3    Zeisler, J.4    Hayden, M.R.5
  • 5
    • 0028076253 scopus 로고
    • Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease
    • Benitez J, Fernandez E, Garcia Ruiz P, Robledo M, Ramos C, Yebenes J (1994) Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease. Hum Genet 94:563-564
    • (1994) Hum Genet , vol.94 , pp. 563-564
    • Benitez, J.1    Fernandez, E.2    Garcia Ruiz, P.3    Robledo, M.4    Ramos, C.5    Yebenes, J.6
  • 6
  • 7
    • 0042115272 scopus 로고    scopus 로고
    • Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
    • Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, et al (1997) Contribution of DNA sequence and CAG 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    LaTray, L.4    Nichol, K.5    Bourdelat-Parks, B.6    Goldberg, Y.P.7
  • 8
    • 0029101386 scopus 로고
    • Correlations between triplet repeat expansion and clinical features in Huntington's disease
    • Claes S, Van Zand K, Legius E, Dom R, Malfroid M, Baro F, Godderis J, et al (1995) Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol 52:749-753
    • (1995) Arch Neurol , vol.52 , pp. 749-753
    • Claes, S.1    Van Zand, K.2    Legius, E.3    Dom, R.4    Malfroid, M.5    Baro, F.6    Godderis, J.7
  • 9
    • 0027482792 scopus 로고
    • Mutation size and age at onset in Huntington's disease
    • Craufurd D, Dodge A (1993) Mutation size and age at onset in Huntington's disease. J Med Genet 30:1008-1011
    • (1993) J Med Genet , vol.30 , pp. 1008-1011
    • Craufurd, D.1    Dodge, A.2
  • 10
  • 12
    • 0027157973 scopus 로고
    • A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease
    • Goldberg YP, Andrew SE, Clarke LA, Hayden MR (1993a) A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet 2:635-636
    • (1993) Hum Mol Genet , vol.2 , pp. 635-636
    • Goldberg, Y.P.1    Andrew, S.E.2    Clarke, L.A.3    Hayden, M.R.4
  • 13
    • 0027359989 scopus 로고
    • Molecular analysis of new mutations causing Huntington disease: Intermediate alleles and sex of origin effects
    • Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, et al (1993b) Molecular analysis of new mutations causing Huntington 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    Telenius, H.7
  • 14
    • 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 CT, 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.T.2    Zeisler, J.3    Almqvist, E.4    Sillence, D.5    Richards, F.6    Gacy, A.M.7
  • 16
    • 0004075694 scopus 로고
    • Springer, London, Berlin, Heidelberg
    • Hayden MR (1981) Huntington's chorea. Springer, London, Berlin, Heidelberg
    • (1981) Huntington's Chorea
    • Hayden, M.R.1
  • 18
    • 16944363364 scopus 로고
    • Huntington Study Group, Rochester, NY
    • n) genetic (DNA). Huntington Study Group, Rochester, NY
    • (1995) n) Genetic (DNA)
  • 19
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 23
    • 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
  • 24
    • 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, Yamauchi N, Ueno S, Konodoh K, Sano N, et al (1995) DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45:143-149
    • (1995) Neurology , vol.45 , pp. 143-149
    • Komure, O.1    Sano, A.2    Nishino, N.3    Yamauchi, N.4    Ueno, S.5    Konodoh, K.6    Sano, N.7
  • 25
    • 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, Spence N, Telenius H, Goldberg YP, Hayden MR (1995) Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 57:343-350
    • (1995) Am J Hum Genet , vol.57 , pp. 343-350
    • Kremer, B.1    Almqvist, E.2    Theilmann, J.3    Spence, N.4    Telenius, H.5    Goldberg, Y.P.6    Hayden, M.R.7
  • 26
  • 28
    • 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, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee W-C, et al (1992) Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2:301-304
    • (1992) Nat Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.B.2    Harding, A.E.3    Warner, C.L.4    Spiegel, R.5    Hausmanowa-Petrusewicz, I.6    Yee, W.-C.7
  • 33
    • 0009764369 scopus 로고    scopus 로고
    • n determinations in Huntington's disease
    • n determinations in Huntington's disease. Neurology 46:258
    • (1996) Neurology , vol.46 , pp. 258
    • Marshall, F.J.1
  • 34
    • 0029042742 scopus 로고
    • Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
    • Maruyama H, Nakamura S, Matsuyama Z, Sakai T, Doyu M, Sobue G, Seto M, et al (1995) Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 4:807-812
    • (1995) Hum Mol Genet , vol.4 , pp. 807-812
    • Maruyama, H.1    Nakamura, S.2    Matsuyama, Z.3    Sakai, T.4    Doyu, M.5    Sobue, G.6    Seto, M.7
  • 35
    • 0029027047 scopus 로고
    • Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease
    • Masuda N, Goto J, Murayama N, Watanabe M, Kondo I, Kanazawa I (1995) Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease. J Med Genet 32:701-705
    • (1995) J Med Genet , vol.32 , pp. 701-705
    • Masuda, N.1    Goto, J.2    Murayama, N.3    Watanabe, M.4    Kondo, I.5    Kanazawa, I.6
  • 37
    • 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
  • 38
    • 0029980133 scopus 로고    scopus 로고
    • Huntington disease - Another chapter rewritten
    • Nance MA (1996) Huntington disease - another chapter rewritten. Am J Hum Genet 59:1-6
    • (1996) Am J Hum Genet , vol.59 , pp. 1-6
    • Nance, M.A.1
  • 39
    • 0027327418 scopus 로고
    • Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families
    • Norremolle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sorenson SA (1993) Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families. Hum Mol Genet 2:1475-1476
    • (1993) Hum Mol Genet , vol.2 , pp. 1475-1476
    • Norremolle, A.1    Riess, O.2    Epplen, J.T.3    Fenger, K.4    Hasholt, L.5    Sorenson, S.A.6
  • 42
    • 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 (1994) 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
  • 44
    • 0027519511 scopus 로고
    • Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
    • Rubinsztein DC, Barton DE, Davison BCC, Ferguson-Smith MA (1993) Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum Mol Genet 2:1713-1715
    • (1993) Hum Mol Genet , vol.2 , pp. 1713-1715
    • Rubinsztein, D.C.1    Barton, D.E.2    Davison, B.C.C.3    Ferguson-Smith, M.A.4
  • 45
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease gene (HD) 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 J-J, Chotai K, et al (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease gene (HD) 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
  • 46
    • 0027425189 scopus 로고
    • Huntington's disease in Grampian region: Correlation of the CAG repeat number and the age of onset of the disease
    • Simpson SA, Davidson MJ, Barron LH (1993) Huntington's disease in Grampian region: correlation of the CAG repeat number and the age of onset of the disease. J Med Genet 30:1014-1017
    • (1993) J Med Genet , vol.30 , pp. 1014-1017
    • Simpson, S.A.1    Davidson, M.J.2    Barron, L.H.3
  • 48
    • 0029074484 scopus 로고
    • A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations
    • Soong B-W, Wang JT (1995) A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations. J Med Genet 32:404-408
    • (1995) J Med Genet , vol.32 , pp. 404-408
    • Soong, B.-W.1    Wang, J.T.2
  • 49
  • 50
    • 0027377151 scopus 로고
    • Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15
    • Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA (1993) Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 2:1547-1549
    • (1993) Hum Mol Genet , vol.2 , pp. 1547-1549
    • Stine, O.C.1    Pleasant, N.2    Franz, M.L.3    Abbott, M.H.4    Folstein, S.E.5    Ross, C.A.6
  • 51
    • 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
  • 53
    • 0028234720 scopus 로고
    • Instability of CAG repeats in Huntington's disease: Relationship to parental transmission and age of onset
    • Trottier Y, Biancalana V, Mandel JL (1994) Instability of CAG repeats in Huntington's disease: relationship to parental transmission and age of onset. J Med Genet 31:377-382
    • (1994) J Med Genet , vol.31 , pp. 377-382
    • Trottier, Y.1    Biancalana, V.2    Mandel, J.L.3
  • 54
    • 0027175492 scopus 로고
    • A simple non-radioactive method for diagnosis of Huntington's disease
    • Valdes JM, Tagle DA, Elmer LW, Collins FS (1993) A simple non-radioactive method for diagnosis of Huntington's disease. Hum Mol Genet 2:633-634
    • (1993) Hum Mol Genet , vol.2 , pp. 633-634
    • Valdes, J.M.1    Tagle, D.A.2    Elmer, L.W.3    Collins, F.S.4
  • 55
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease
    • Warner JP, Barron L, Brock DJP (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease. Mol Cell Probes 7:235-239
    • (1993) Mol Cell Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.2    Brock, D.J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.