{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:17:17Z","timestamp":1789755437079,"version":"4.0.1"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4604,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We recently discovered an amino acid\u2013altering heterozygous mutation in codon 178 of the <jats:italic>PRNP<\/jats:italic> amyloid precursor gene in patients with familial Creutzfeldt\u2010Jakob disease. This mutation is now shown to be associated with the occurence of disease in 7 unrelated families of Western European origin, among which a total of 65 members are known to have died from Creutzfeldt\u2010Jakob disease. The mutation was detected in each of 17 tested patients, including at least 1 affected member of each family, and in 16 of 36 of their first\u2010degree relatives, but not in affected families with other mutations, patietns with the nonfamilial form of the disease, or 83 healthy control individuals. Linkage analysis in two informative families yielded a lod score of 5.30, which, because no recombinants were found, strongly suggests that codon 178<jats:sup>Asn<\/jats:sup> is the actual disease mutation.<\/jats:p>","DOI":"10.1002\/ana.410310308","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:11:00Z","timestamp":1104581460000},"page":"274-281","source":"Crossref","is-referenced-by-count":83,"title":["Creutzfeldt\u2010Jakob disease cosegregates with the codon 178<sup>Asn<\/sup><i>PRNP<\/i> mutation in families of European origin"],"prefix":"10.1002","volume":"31","author":[{"given":"Lev G.","family":"Goldfarb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matti","family":"Haltia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Cathala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Richard","family":"McCombie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jussi","family":"Kovanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larisa","family":"\u010cerven\u0306\u00e1kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Goldin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Nieto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"Godec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Asher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Carleton","family":"Gajdusek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"177","article-title":"Creutzfeldt\u2010Jakob disease: patterns of worldwide occurrence and the significance of familial and spatial clustering","volume":"5","author":"Masters CL","year":"1979","journal-title":"Neurology"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.6.895"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.6801762"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.6377496"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198602273140904"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(86)90796-5"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.12.1820"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92670-W"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91198-4"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91696-R"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(79)90171-0"},{"key":"e_1_2_1_13_2","first-page":"165","article-title":"Maladie de Creutzfeldt\u2010Jakob familiale. Etude clinique et anatomique de trois cas sur huit r\u00e9partis sur trois g\u00e9n\u00e9rations. Transmission au singe Ecureuil","volume":"134","author":"Buge A","year":"1978","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90087-8"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90010-2"},{"key":"e_1_2_1_16_2","first-page":"379","article-title":"Maladie de Creutzfeldt\u2010Jakob en France: int\u00e9r\u011bt des formes familiales","volume":"15","author":"Cathala F","year":"1986","journal-title":"Presse Med"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90151-V"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1964.00460140067009"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1968.00480020023002"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200209"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.535"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(90)90130-K"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2999980"},{"key":"e_1_2_1_24_2","first-page":"A189","article-title":"Patietns with Creutzfeldt\u2010Jakob disease and kuru lack the mutation in the PRIP gene found in Gerstmann\u2010Str\u00e4ussler syndrome, but they show a different double\u2010allele mutation in the same gene","volume":"45","author":"Goldfarb LG","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(89)90095-2"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91693-5"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)92073-Q"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)93443-S"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199104183241604"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91713-3"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(90)90038-F"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.2.422"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10926"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/338342a0"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)92317-6"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410270205"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.3.375"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.11.1446"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1578"},{"key":"e_1_2_1_41_2","first-page":"274","article-title":"Mutation du codon 117 due g\u00e8ne du prion dans une maladie de Gerstmann\u2010Str\u00e4ussler\u2010Scheinker","volume":"147","author":"Tranchant C","year":"1991","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.5.681"},{"key":"e_1_2_1_43_2","unstructured":"HsiaoKK GhettiB FarlowM et al. Mutant prion protein in Gerstmann\u2010Str\u00e4ussler\u2010Scheinker disease with neurofibrillary tangles.Nature1991(in press)"},{"key":"e_1_2_1_44_2","first-page":"91","volume-title":"Subacute spongiform encephalopathies","author":"Gajdusek DC","year":"1991"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310309"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410310308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410310308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T04:09:48Z","timestamp":1698120588000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410310308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,3]]},"references-count":44,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1002\/ana.410310308"],"URL":"https:\/\/doi.org\/10.1002\/ana.410310308","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,3]]}}}