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Volumn 64, Issue 4, 1999, Pages 1063-1070

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; PRION PROTEIN;

EID: 0342505312     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302340     Document Type: Article
Times cited : (79)

References (37)
  • 1
    • 0343890012 scopus 로고
    • Encyclopedia of Jewish history: Events and eras of the Jewish people
    • New York
    • Alpher J (ed) (1986) Encyclopedia of Jewish history: events and eras of the Jewish people. Facts on File, New York, pp 82-89
    • (1986) Facts on File , pp. 82-89
    • Alpher, J.1
  • 3
    • 0019322245 scopus 로고
    • DNA methylation and the frequency of CpG in animal DNA
    • Bird AP (1980) DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res 8:1499-1504
    • (1980) Nucleic Acids Res , vol.8 , pp. 1499-1504
    • Bird, A.P.1
  • 4
    • 0022973492 scopus 로고
    • Creutzfeldt-Jakob disease: Clinical analysis of a consecutive series of 230 neuropathologically verified cases
    • Brown P, Cathala F, Castaigne P, Gajdusek DC (1986) Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases. Ann Neurol 20: 597-602
    • (1986) Ann Neurol , vol.20 , pp. 597-602
    • Brown, P.1    Cathala, F.2    Castaigne, P.3    Gajdusek, D.C.4
  • 5
    • 0026481859 scopus 로고
    • Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20
    • Brown P, Galvez S, Goldfarb LG, Nieto A, Cartier L, Gibbs CJ Jr, Gajdusek DC (1992) Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. J Neurol Sci 112:65-67
    • (1992) J Neurol Sci , vol.112 , pp. 65-67
    • Brown, P.1    Galvez, S.2    Goldfarb, L.G.3    Nieto, A.4    Cartier, L.5    Gibbs C.J., Jr.6    Gajdusek, D.C.7
  • 6
    • 0028235176 scopus 로고
    • Human spongiform encephalopathy: The National Institutes of Health series of 300 cases of experimentally transmitted disease
    • Brown P, Gibbs CJ Jr, Rodgers-Johnson P, Asher DM, Sulima MP, Bacote A, Goldfarb LG et al (1994) Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease. Ann Neurol 35:513-529
    • (1994) Ann Neurol , vol.35 , pp. 513-529
    • Brown, P.1    Gibbs C.J., Jr.2    Rodgers-Johnson, P.3    Asher, D.M.4    Sulima, M.P.5    Bacote, A.6    Goldfarb, L.G.7
  • 12
    • 0000074597 scopus 로고    scopus 로고
    • High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy
    • D'Alessandro M, Petraroli R, Ladogana A, Pocchiari M (1998) High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy. Lancet 352:1989-1990
    • (1998) Lancet , vol.352 , pp. 1989-1990
    • D'Alessandro, M.1    Petraroli, R.2    Ladogana, A.3    Pocchiari, M.4
  • 13
    • 0027373649 scopus 로고
    • Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD)
    • Gabizon R, Rosenmann H, Meiner Z, Kahana E, Shugart Y, Ott J, Prusiner SB (1993) Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). Am J Hum Genet 53:828-835
    • (1993) Am J Hum Genet , vol.53 , pp. 828-835
    • Gabizon, R.1    Rosenmann, H.2    Meiner, Z.3    Kahana, E.4    Shugart, Y.5    Ott, J.6    Prusiner, S.B.7
  • 14
    • 0018834536 scopus 로고
    • Descriptive epidemiology of Creutzfeldt-Jakob disease in Chile
    • Galvez S, Masters C, Gajdusek DC (1980) Descriptive epidemiology of Creutzfeldt-Jakob disease in Chile. Arch Neurol 37:11-14
    • (1980) Arch Neurol , vol.37 , pp. 11-14
    • Galvez, S.1    Masters, C.2    Gajdusek, D.C.3
  • 15
    • 0014430962 scopus 로고
    • Creutzfeldt-Jakob disease (subacute spongiform encephalopathy): Transmission to the chimpanzee
    • Gibbs CJ Jr, Gajdusek DC, Asher DM, Alpers MP, Beck E, Daniel PM (1968) Creutzfeldt-Jakob disease (subacute spongiform encephalopathy): transmission to the chimpanzee. Science 161:388-389
    • (1968) Science , vol.161 , pp. 388-389
    • Gibbs C.J., Jr.1    Gajdusek, D.C.2    Asher, D.M.3    Alpers, M.P.4    Beck, E.5    Daniel, P.M.6
  • 16
    • 0028906054 scopus 로고
    • The transmissible spongiform encephalopathies
    • Goldfarb LG, Brown P (1995) The transmissible spongiform encephalopathies. Annu Rev Med 46:57-65
    • (1995) Annu Rev Med , vol.46 , pp. 57-65
    • Goldfarb, L.G.1    Brown, P.2
  • 17
    • 0000757134 scopus 로고
    • Patients with Creutzfeldt-Jakob disease and kuru lack the mutation in the PRIP gene found in Gerstmann-Sträussler-Scheinker syndrome, but they show a different double-allele mutation in the same gene
    • Goldfarb LG, Brown P, Goldgaber D, Asher DM, Strass N, Graupera G, Piccardo P, et al (1989) Patients with Creutzfeldt-Jakob disease and kuru lack the mutation in the PRIP gene found in Gerstmann-Sträussler-Scheinker syndrome, but they show a different double-allele mutation in the same gene. Am J Hum Genet Suppl 45:A189
    • (1989) Am J Hum Genet Suppl , vol.45
    • Goldfarb, L.G.1    Brown, P.2    Goldgaber, D.3    Asher, D.M.4    Strass, N.5    Graupera, G.6    Piccardo, P.7
  • 20
    • 0024992359 scopus 로고
    • Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-Libyan origin
    • Goldfarb LG, Korczyn AD, Brown P, Chapman J, Gajdusek DC (1990b) Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-Libyan origin. Lancet 336:637
    • (1990) Lancet , vol.336 , pp. 637
    • Goldfarb, L.G.1    Korczyn, A.D.2    Brown, P.3    Chapman, J.4    Gajdusek, D.C.5
  • 21
    • 0024995430 scopus 로고
    • Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia
    • Goldfarb LG, Mitrova E, Brown P, Toh BH, Gajdusek DC (1990c) Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. Lancet 336:514
    • (1990) Lancet , vol.336 , pp. 514
    • Goldfarb, L.G.1    Mitrova, E.2    Brown, P.3    Toh, B.H.4    Gajdusek, D.C.5
  • 24
    • 0025869213 scopus 로고
    • Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease
    • Hsiao K, Meiner Z, Kahana E, Cass C, Kahana I, Avrahami D et al (1991) Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N Engl J Med 324: 1091-1097
    • (1991) N Engl J Med , vol.324 , pp. 1091-1097
    • Hsiao, K.1    Meiner, Z.2    Kahana, E.3    Cass, C.4    Kahana, I.5    Avrahami, D.6
  • 25
    • 0029960846 scopus 로고    scopus 로고
    • Different origins of mutations at the Machado-Joseph disease locus (MJD1)
    • Iughetti P, Zatz M, Bueno MRP, Marie SK (1996) Different origins of mutations at the Machado-Joseph disease locus (MJD1). J Med Genet 33:439-440
    • (1996) J Med Genet , vol.33 , pp. 439-440
    • Iughetti, P.1    Zatz, M.2    Bueno, M.R.P.3    Marie, S.K.4
  • 26
    • 0028143949 scopus 로고
    • Neurologic genetic diseases of Jewish people
    • Korczyn AD (1994) Neurologic genetic diseases of Jewish people. Biomed Pharmacother 48:391-397
    • (1994) Biomed Pharmacother , vol.48 , pp. 391-397
    • Korczyn, A.D.1
  • 27
    • 0028913523 scopus 로고
    • An E-M algorithm and testing strategy for multiple-locus haplotypes
    • Long JC, Williams RC, Urbanek M (1995) An E-M algorithm and testing strategy for multiple-locus haplotypes. Am J Hum Genet 56:799-810
    • (1995) Am J Hum Genet , vol.56 , pp. 799-810
    • Long, J.C.1    Williams, R.C.2    Urbanek, M.3
  • 28
    • 0018360851 scopus 로고
    • Creutzfeldt-Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering
    • Masters CL, Harris JO, Gajdusek DC, Gibbs CJ Jr, Bernoulli C, Asher DM (1979) Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 5:177-188
    • (1979) Ann Neurol , vol.5 , pp. 177-188
    • Masters, C.L.1    Harris, J.O.2    Gajdusek, D.C.3    Gibbs C.J., Jr.4    Bernoulli, C.5    Asher, D.M.6
  • 29
    • 0031183207 scopus 로고    scopus 로고
    • Familial Creutzfeldt-Jakob disease: Codon 200 prion disease in Libyan Jews
    • Meiner Z, Gabizon R, Prusiner SB (1997) Familial Creutzfeldt-Jakob disease: codon 200 prion disease in Libyan Jews. Medicine 76:227-237
    • (1997) Medicine , vol.76 , pp. 227-237
    • Meiner, Z.1    Gabizon, R.2    Prusiner, S.B.3
  • 30
    • 0025990503 scopus 로고
    • Some new aspects of CJD epidemiology in Slovakia
    • Mitrova E (1991) Some new aspects of CJD epidemiology in Slovakia. Eur J Epidemiol 7:439-449
    • (1991) Eur J Epidemiol , vol.7 , pp. 439-449
    • Mitrova, E.1
  • 32
    • 17344378909 scopus 로고    scopus 로고
    • Japanese Creutzfeldt-Jakob disease patients exhibiting high incidence of the E200K PRNP mutation and located in the basin of a river
    • Miyakawa T, Inoue K, Iseki E, Kawanishi C, Sugiyama N, Onishi H, Yamada Y, et al (1998) Japanese Creutzfeldt-Jakob disease patients exhibiting high incidence of the E200K PRNP mutation and located in the basin of a river. Neurol Res 20:684-688
    • (1998) Neurol Res , vol.20 , pp. 684-688
    • Miyakawa, T.1    Inoue, K.2    Iseki, E.3    Kawanishi, C.4    Sugiyama, N.5    Onishi, H.6    Yamada, Y.7
  • 35
    • 0028787581 scopus 로고
    • Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: Evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Porruguese-Azorean mutation
    • Stevanin G, Cancel G, Didierjean O, Durr A, Abbas N, Cassa E, Feingold J, et al (1995) Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Porruguese-Azorean mutation. Am J Hum Genet 57: 1247-1250
    • (1995) Am J Hum Genet , vol.57 , pp. 1247-1250
    • Stevanin, G.1    Cancel, G.2    Didierjean, O.3    Durr, A.4    Abbas, N.5    Cassa, E.6    Feingold, J.7
  • 36
    • 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
  • 37
    • 2442735162 scopus 로고    scopus 로고
    • Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: A systematic analysis of predisposing mutations and allelic variation in the PRNP gene
    • Windl O, Dempster M, Estibeiro JP, Lathe R, De Silva R, Esmonde T, Will R, et al (1996) Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. Hum Genet 98:259-264
    • (1996) Hum Genet , vol.98 , pp. 259-264
    • Windl, O.1    Dempster, M.2    Estibeiro, J.P.3    Lathe, R.4    De Silva, R.5    Esmonde, T.6    Will, R.7


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