{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T12:20:11Z","timestamp":1767356411776,"version":"3.48.0"},"reference-count":27,"publisher":"The Royal Society","issue":"1306","license":[{"start":{"date-parts":[[1994,3,29]],"date-time":"1994-03-29T00:00:00Z","timestamp":764899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1994,3,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Various mutations in the prion protein (PrP) gene are associated with Creutzfeldt-Jakob disease (CJD), a transmissible fatal neurodegenerative disorder. Among Libyan Jews, cjd is a familial disease with an incidence about 100 times higher than the worldwide population, CJD in this community segregates with a point mutation at codon 200 of the PrP gene which causes the substitution of lysine for glutamate. This mutation was found in all definitely affected individuals and yields a maximum lod score of 4.85. Some healthy elderly mutation carriers above 65 years of age were identified, suggesting partial penetrance. Homozygous patients have the same disease pattern and age of onset as heterozygous patients, which argues that CJD associated with the codon 200 lysine mutation is a true dominant disorder. In the Caucasian population, Palmer et al. (1991) reported an association between homozygosity in a polymorphic site at codon 129 of the PrP gene, coding for either valine or methionine, with a tendency to acquire the sporadic or iatrogenic forms of CJD, as well as with disease age of appearance in the genetic type. The incidence of the polymorphism at codon 129 in the control Libyan population is similar to the one found in the Caucasian population. In the Libyan CJD patients, the codon 200 mutation is within a Met129-encoding allele. The incidence of the Met allele is significantly higher in the affected pedigrees than in the control Libyan population; however, no difference was detected between CJD patients, codon 200 healthy carriers, and their normal family members. Homozygosity at codon 129 did not correlate with age of onset or the clinical course in the Libyan Jewish patients. Our finding suggests that the codon 200 mutation causing CJD in Libyan Jews occurred in an isolated pedigree, and has not propagated since to the general Libyan Jewish community.<\/jats:p>","DOI":"10.1098\/rstb.1994.0033","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T17:54:58Z","timestamp":1166205298000},"page":"385-390","source":"Crossref","is-referenced-by-count":17,"title":["Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease"],"prefix":"10.1098","volume":"343","author":[{"given":"Ruth","family":"Gabizon","sequence":"first","affiliation":[{"name":"Department of Neurology, Hadassah University Hospital, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Rosenman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hadassah University Hospital, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeev","family":"Meiner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hadassah University Hospital, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irit","family":"Kahana","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hadassah University Hospital, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Kahana","sequence":"additional","affiliation":[{"name":"Neurological Unit, Barzilai Medical Center, Ashkelon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin","family":"Shugart","sequence":"additional","affiliation":[{"name":"Department of Genetics, Columbia University, U. S. A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurg","family":"Ott","sequence":"additional","affiliation":[{"name":"Department of Genetics, Columbia University, U. S. A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley Ben","family":"Prusiner","sequence":"additional","affiliation":[{"name":"Departments of Neurology, and Biochemistry and Biophysics, University of California, San Francisco, California 94143-0518, U. S. A."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"175","reference":[{"key":"p_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.192.4238.428-b"},{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92953-Y"},{"key":"p_3","doi-asserted-by":"publisher","DOI":"10.1126\/science.6815801"},{"key":"p_4","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)93128-V"},{"key":"p_5","first-page":"974","article-title":"Pro-Leu change at position 102 o f prion protein is the most com m on but not the sole m utation related to G erstm ann-S traussler syndrome. Biochem. biophys","volume":"163","author":"Tateishi J .","year":"1989","journal-title":"Res. Commun."},{"key":"p_6","doi-asserted-by":"publisher","DOI":"10.1042\/bj2660001"},{"key":"p_7","unstructured":"G ajdusek C.J. & G ibbs C.J. J r 1990 In Biomedical advances in aging (cd. A. G oldstein) pp. 3-24. New York: Plenum Press."},{"key":"p_8","first-page":"514","article-title":"# M u tatio n in codon 200 of scrapie am yloid precursor gene linked to C reutzfeldt J a k o b disease in S ephardic Jew s of L ibyan and N on-L ibyan origin","volume":"336","author":"Brown P.","year":"1990","journal-title":"Lancet"},{"key":"p_9","first-page":"637","article-title":"\/? 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Neurol."},{"key":"p_15","unstructured":"106 204-206."},{"key":"p_16","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.12.1820"},{"key":"p_17","doi-asserted-by":"publisher","DOI":"10.1038\/338342a0"},{"key":"p_18","doi-asserted-by":"publisher","DOI":"10.1126\/science.1980379"},{"key":"p_19","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.5.681"},{"key":"p_20","first-page":"1091","article-title":"\/? M u ta tio n of the prion p ro tein in L ib y an Jew s w ith C reu tzfeld t-Ja k o b disease. New Engl. J","volume":"324","year":"1991","journal-title":"Med."},{"key":"p_21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"p_22","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.2.225"},{"key":"p_23","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(85)90333-2"},{"key":"p_24","doi-asserted-by":"crossref","unstructured":"O w en F. P oulter M . Lofthouse R. etal 1989 Insertion in prion p rotein gene in fam ilial C reu tzfeld t-Ja k o b disease. 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