{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T07:48:40Z","timestamp":1792568920323,"version":"4.5.0"},"reference-count":58,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3051,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1996,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We sequenced the prion protein gene and studied the biochemical characteristics and the intracerebral distribution of protease\u2010resistant prion protein with Western blot and immunohistochemistry in 19 cases of sporadic Creutzfeldt\u2010Jakob disease. We identified four groups of subjects defined by the genotype at codon 129 of the prion protein gene, the site of a common methioninelvaline polymorphism, and two types of protease\u2010resistant prion proteins that differed in size and glycosylation. The four Creutzfeldt\u2010Jakob disease groups showed distinct clinicopathological features that corresponded to previously described variants. The typical Creutzfeldt Jakob disease phenotype or myoclonic variant and the Heidenhain variant were linked to methionine homozygosity at codon 129 and to \u201ctype 1\u201d protease\u2010resistant prion protein. The atypical and rarer variants such as that with dementia of long duration, the ataxic variant, and the variant with kuru plaques were linked to different genotypes at codon 129 and shared the \u201ctype 2\u201d protease\u2010resistant prion protein. Our data indicate that the sporadic form of Creutzfeldt\u2010Jakob disease comprises a limited number of variants. The methionine\/valine polymorphism at codon 129 of the prion protein gene and two types of protease\u2010resistant prion proteins are the major determinants of these variants. These findings suggest the existence of prion strains in humans and provide the molecular basis for a novel classification of sporadic Creutzfeldt\u2010Jakob disease.<\/jats:p>","DOI":"10.1002\/ana.410390613","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:46:04Z","timestamp":1104590764000},"page":"767-778","source":"Crossref","is-referenced-by-count":709,"title":["Molecular basis of phenotypic variability in sporadc creudeldt\u2010jakob disease"],"prefix":"10.1002","volume":"39","author":[{"given":"Piero","family":"Parchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudolph","family":"Castellani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardino","family":"Ghetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu G.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Farlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders A. 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