{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:09:20Z","timestamp":1791025760409,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"6873","license":[{"start":{"date-parts":[[1993,1,30]],"date-time":"1993-01-30T00:00:00Z","timestamp":728352000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ"],"published-print":{"date-parts":[[1993,1,30]]},"abstract":"<jats:p>OBJECTIVE--To identify cases of inherited prion diseases in Britain and to assess their phenotypic features. DESIGN--Screening study of patients suspected clinically to have Creutzfeldt-Jakob disease and other neurodegenerative diseases by prion protein gene analysis. SETTING--Biochemical research department. SUBJECTS--Patients suspected to have Creutzfeldt-Jakob disease and other neurodegenerative diseases. RESULTS--Two patients with symptoms characteristic of sporadic Creutzfeldt-Jakob disease were found to have inherited prion protein disease (PrP lysine 200), with a mutation at codon 200 of the prion protein gene. Both were homozygous at codon 129 of the gene. One patient was a man aged 58 of British descent while the other was of Libyan Jewish origin. CONCLUSION--Two foci of inherited prion disease are known, among Libyan Jews and in Slovakia. A separate British focus of the disease may also exist. Heterozygosity at codon 129 may lead to reduced penetrance of the mutation.<\/jats:p>","DOI":"10.1136\/bmj.306.6873.301","type":"journal-article","created":{"date-parts":[[2009,3,30]],"date-time":"2009-03-30T08:16:37Z","timestamp":1238400997000},"page":"301-302","source":"Crossref","is-referenced-by-count":23,"title":["Inherited prion disease (PrP lysine 200) in Britain: two case reports."],"prefix":"10.1136","volume":"306","author":[{"given":"J","family":"Collinge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M S","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K C","family":"Sidle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Harding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.410050212","article-title":"Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering","volume":"5","author":"Masters, C.L.; Harris, J.O.; Gajdusek, D.C.; Gibbs, C.J.; Bernoulli, C.; Asher, D.M.","year":"1979","unstructured":"Masters CL, Harris JO, Gajdusek DC, Gibbs CJ, Bernoulli C, Asher DM. Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979;5:177-88.","journal-title":"Ann Neurol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/338342a0","article-title":"Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome","volume":"338","author":"Hsiao, K.; Baker, H.F.; Crow, T.J.; Poulter, M.; Owen, F.; Terwilliger, J.D.","year":"1989","unstructured":"Hsiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, et al. Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature 1989;338:342-5.","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/S0959-437X(05)80156-X","article-title":"Prion diseases","volume":"2","author":"Collinge, J.; Palmer, M.S.","year":"1992","unstructured":"Collinge J, Palmer MS. Prion diseases. Current Opinion in Genetics and Development 1992;2:448-54.","journal-title":"Current Opinion in Genetics and Development"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/0140-6736(90)91518-F","article-title":"Prion dementia without characteristic pathology","volume":"336","author":"Collinge, J.; Owen, F.; Poulter, M.; Leach, M.; Crow, T.J.; Rossor, M.N.","year":"1990","unstructured":"Collinge J, Owen F, Poulter M, Leach M, Crow TJ, Rossor MN, et al. Prion dementia without characteristic pathology. Lancet 1990;336:7-9.","journal-title":"Lancet"},{"key":"ref_5","first-page":"5","article-title":"Terminology of prion disease","volume-title":"Prion diseases of humans and animals","author":"Collinge, J.; Prusiner, S.B.","year":"1992","unstructured":"Collinge J, Prusiner SB. Terminology of prion disease. In: Prusiner SB, Collinge J, Powell J, Anderton B, eds. Prion diseases of humans and animals. London: Ellis Horwood, 1992:5-12."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1126\/science.186.4166.848","article-title":"Creutzfeldt-Jakob disease: hypothesis for high incidence in Libyan Jews in Israel","volume":"186","author":"Herzberg, L.; Herzberg, B.N.; Gibbs, C.J.; Sullivan, W.; Amyx, H.; Gajdusek, D.C.","year":"1974","unstructured":"Herzberg L, Herzberg BN, Gibbs CJ, Sullivan W, Amyx H, Gajdusek DC. Creutzfeldt-Jakob disease: hypothesis for high incidence in Libyan Jews in Israel. Science 1974;186:848.","journal-title":"Science"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1056\/NEJM199104183241604","article-title":"Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease","volume":"324","author":"Hsiao, K.; Meiner, Z.; Kahana, E.; Cass, C.; Kahana, I.; Avrahami, D.","year":"1991","unstructured":"Hsiao K, Meiner Z, Kahana E, Cass C, Kahana I, Avrahami D, et al. Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease. N Engl JMed 1991;324:1091-7.","journal-title":"N Engl JMed"},{"key":"ref_8","first-page":"514","article-title":"Mutation in","volume":"336","author":"Goldfarb, L.G.; Mitrova, E.; Brown, P.; Toh, B.K.; Gajdusek, D.C.","year":"1990","unstructured":"Goldfarb LG, Mitrova E, Brown P, Toh BK, Gajdusek DC. Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. Lancet 1990;336:514-5.","journal-title":"Lancet; of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1038\/353802a0","article-title":"CJD discrepancy","volume":"353","author":"Collinge, J.; Palmer, M.S.","year":"1991","unstructured":"Collinge J, Palmer MS. CJD discrepancy. Nature 1991;353:802.","journal-title":"Nature"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/0140-6736(91)92953-Y","article-title":"Amino acid polymorphism in human prion protein and age at death in inherited prion disease","volume":"337","author":"Baker, H.F.; Poulter, M.; Crow, T.J.; Frith, C.D.; Lofthouse, R.; Ridley, R.M.","year":"1991","unstructured":"Baker HF, Poulter M, Crow TJ, Frith CD, Lofthouse R, Ridley RM, et al. Amino acid polymorphism in human prion protein and age at death in inherited prion disease. Lancet 1991;337:1286.","journal-title":"Lancet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1038\/352340a0","article-title":"Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease","volume":"352","author":"Palmer, M.S.; Dryden, A.J.; Hughes, J.T.; Collinge, J.","year":"1991","unstructured":"Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352:340-2.","journal-title":"Nature"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1016\/0140-6736(91)93128-V","article-title":"Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease","volume":"337","author":"Collinge, J.; Palmer, M.S.; Dryden, A.J.","year":"1991","unstructured":"Collinge J, Palmer MS, Dryden AJ. Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 1991;337:1441-2.","journal-title":"Lancet"},{"key":"ref_13","first-page":"1351","article-title":"Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases","volume":"49","author":"Collinge, J.; Poulter, M.; Davis, M.B.; Baraitser, M.; Owen, F.; Crow, T.J.","year":"1991","unstructured":"Collinge J, Poulter M, Davis MB, Baraitser M, Owen F, Crow TJ, et al. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. 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