{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T17:28:41Z","timestamp":1782235721912,"version":"3.54.5"},"reference-count":67,"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>Human prion diseases occur in inherited, sporadic and acquired forms. The inherited forms are associated with coding mutations in the prion protein gene and the identification of one of these pathogenic mutations allows definitive diagnosis and has resulted in a widening of the previously recognized phenotypic spectrum of these diseases. Study of acquired prion disease provides evidence for genetic susceptibility to development of disease following treatment with contaminated pituitary hormones. Sporadic prion disease occurs predominately in individuals homozygous with respect to a common PrP polymorphism at residue 129. The identification of pathogenic PrP alleles and the role of the codon 129 PrP gene polymorphism in determining susceptibility to prion disease provides strong support for the idea that an abnormal isoform of PrP, PrPSc, is the principal constituent of the prion and that its propagation involves direct PrP-PrP interactions which occur most readily between identical PrP molecules.<\/jats:p>","DOI":"10.1098\/rstb.1994.0031","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T17:54:58Z","timestamp":1166205298000},"page":"371-378","source":"Crossref","is-referenced-by-count":21,"title":["Molecular genetics of human prion diseases"],"prefix":"10.1098","volume":"343","author":[{"given":"John","family":"Collinge","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, St Mary\u2019s Hospital Medical School, Imperial College, London W2 1PG, U. K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"Palmer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, St Mary\u2019s Hospital Medical School, Imperial College, London W2 1PG, U. K."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"175","reference":[{"key":"p_1","unstructured":"Alpers M.P. 1987 Epidemiology and clinical aspects of kuru. In Prions: novel infectious pathogens causing scrapie and Creutzfeldt-Jakob disease (ed. S. B. Prusiner & M. P. McKinley) pp. 451-465. San Diego: Academic Press."},{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92953-Y"},{"key":"p_3","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(86)90662-8"},{"key":"p_4","unstructured":"Beck E. & Daniel P.M. 1987 Neuropathology of transmissible spongiform encephalopathies. In Prions: novel infectious pathogens causing scrapie and Creutzfeldt-Jakob disease (ed. S. B. Prusiner & M. P. McKinley) pp. 331-385. San Diego: Academic Press."},{"key":"p_5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160305"},{"key":"p_6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.6.895"},{"key":"p_7","first-page":"65","article-title":"Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. J. neurol","volume":"112","author":"Brown P.","year":"1992","journal-title":"Sci."},{"key":"p_8","doi-asserted-by":"crossref","unstructured":"Brown P. Preece M.A. & Will R.G. 1992 \" Friendly fire\" in medicine: hormones homografts and Creutzfeldt-Jakob disease. Lancet 340 24-27.","DOI":"10.1016\/0140-6736(92)92431-E"},{"key":"p_9","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90360-3"},{"key":"p_10","unstructured":"Cathala F. & Baron H. 1987 Clinical aspects of Creutzfeldt-Jakob disease. In Prions: novel infectious pathogens causing scrapie and Creutzfeldt-Jakob disease (ed. S. B. Prusiner & M. P. McKinley) pp. 467-509. San Diego: Academic Press."},{"key":"p_11","doi-asserted-by":"publisher","DOI":"10.1038\/315331a0"},{"key":"p_12","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)90256-0"},{"key":"p_13","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)91518-F"},{"key":"p_14","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)93128-V"},{"key":"p_15","first-page":"1351","article-title":"\u00a3 Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases","volume":"49","author":"Collinge J.","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"p_16","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.3.687"},{"key":"p_17","doi-asserted-by":"crossref","unstructured":"Collinge J. Palmer M.S. Campbell T.A. Sidle K.C.L. Carroll D. & Harding A.E. 1993 Inherited prion disease (PrP Iysine 200) in Britain: two case reports. Br. med. J. 306 301-302.","DOI":"10.1136\/bmj.306.6873.301"},{"key":"p_18","doi-asserted-by":"publisher","DOI":"10.1038\/353802a0"},{"key":"p_19","first-page":"443","article-title":"Deletion in the prion protein gene in a demented patient. Hum. molec","volume":"1","author":"Diedrich J.F.","year":"1992","journal-title":"Genet."},{"key":"p_20","first-page":"974","article-title":"Pro leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann Straussler syndrome. Biochem. biophys","volume":"163","author":"Doh","year":"1989","journal-title":"Res. Commun."},{"key":"p_21","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/116.3.555"},{"key":"p_22","doi-asserted-by":"publisher","DOI":"10.1038\/209794a0"},{"key":"p_23","first-page":"906","article-title":"Uber ein noch nicht beschriebenes Rcflexphanomcn bci einer Erkrankung des zcrcbellaren Systems","volume":"78","author":"Gerstmann J.","year":"1928","journal-title":"Wien. Med. Wochenschr."},{"key":"p_24","first-page":"736","article-title":"Ober eine eigenartige hercditar-familiare Erkrankung des Zentralncrvensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lakalen Alterns","volume":"154","author":"Gerstmann J.","year":"1936","journal-title":"Z. Neurol."},{"key":"p_25","doi-asserted-by":"publisher","DOI":"10.1126\/science.161.3839.388"},{"key":"p_26","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4107.67"},{"key":"p_27","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)93443-S"},{"key":"p_28","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)92073-Q"},{"key":"p_29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10926"},{"key":"p_30","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91198-4"},{"key":"p_31","first-page":"204","article-title":"Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker's syndrome","volume":"106","author":"Goldgaber D.","year":"1989","journal-title":"Neurol."},{"key":"p_32","unstructured":"Expl."},{"key":"p_33","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(59)92081-1"},{"key":"p_34","doi-asserted-by":"crossref","unstructured":"Hsiao K. Baker H.F. Grow T.J. etal 1989 Linkage of a prion protein missense variant to Gerstmann-Strausslcr syndrome. Nature I.ond. 338 342-345.","DOI":"10.1038\/338342a0"},{"key":"p_35","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199104183241604"},{"key":"p_36","first-page":"68","article-title":"Mutant prion proteins in Gerstmann Straussler-Sheinker disease with neurofibrillary tangles","volume":"1","author":"Hsiao K.","year":"1992","journal-title":"NatureGenetics"},{"key":"p_37","doi-asserted-by":"publisher","DOI":"10.1126\/science.1980379"},{"key":"p_38","unstructured":"Hsiao K.K. Groth D. Scott M. etal 1992 Genetic and transgenetic studies of prion proteins in Gerstmann Straussler-Schcinker disease. In Prion diseases oj humans and animals (ed. S. B. Prusiner J. Collinge J. Powell & B. Anderton) pp. 120-128. London: Ellis Horwood."},{"key":"p_39","doi-asserted-by":"publisher","DOI":"10.1177\/030098588802500514"},{"key":"p_40","first-page":"418","article-title":"Spongiform encephalopathy in an arabian oryx (Oryx leucoryx) and a greater kudu {Tragelaphus strepsiceros)","volume":"127","author":"Kirkwood J.K .","year":"1990","journal-title":"Vet. Rec."},{"key":"p_41","first-page":"525","article-title":"An amber mutation of prion protein in Gerstmann Straussler syndrome with mutant PrP plaques. Biochem. biophys","volume":"192","author":"Kitamoto T.","year":"1993","journal-title":"Res. Commun."},{"key":"p_42","first-page":"799","article-title":"Pathology of kuru","volume":"8","author":"Klatzo I.","year":"1959","journal-title":"Lab. Invest."},{"key":"p_43","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92826-N"},{"key":"p_44","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.4.809"},{"key":"p_45","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.22.6745"},{"key":"p_46","first-page":"589","article-title":"Epidemiological and experimental studies on a new incident of transmissible mink encephalopathy. J. gen","volume":"72","author":"Marsh R.F.","year":"1991","journal-title":"Virol."},{"key":"p_47","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.3.559"},{"key":"p_48","first-page":"365","article-title":"Scrapie in sheep","volume":"5","author":"McGowan J.P.","year":"1922","journal-title":"Scott. J. Agric."},{"key":"p_49","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.3.669"},{"key":"p_50","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199202133260704"},{"key":"p_51","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(85)90333-2"},{"key":"p_52","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91713-3"},{"key":"p_53","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(91)90075-N"},{"key":"p_54","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(92)90056-H"},{"key":"p_55","doi-asserted-by":"publisher","DOI":"10.1038\/352340a0"},{"key":"p_56","first-page":"541","article-title":"Deletions in the prion protein gene are not associated with CJD. Hum. molec","volume":"2","author":"Palmer M.S.","year":"1993","journal-title":"Genet."},{"key":"p_57","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.3.675"},{"key":"p_58","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198712173172505"},{"key":"p_59","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90134-Z"},{"key":"p_60","first-page":"758","article-title":"Localization of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human brain. Biochem. biophys","volume":"140","author":"Robakis N.K.","year":"1986","journal-title":"Res. Commun."},{"key":"p_61","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.19.7358"},{"key":"p_62","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90266-H"},{"key":"p_63","doi-asserted-by":"publisher","DOI":"10.1038\/349569a0"},{"key":"p_64","doi-asserted-by":"publisher","DOI":"10.1136\/vr.121.18.419"},{"key":"p_65","first-page":"638","article-title":"Bovine spongiform encephalopathy: epidemiological studies","volume":"123","author":"Wilesmith J.W .","year":"1988","journal-title":"Vet. Rec."},{"key":"p_66","doi-asserted-by":"publisher","DOI":"10.7589\/0090-3558-16.1.89"},{"key":"p_67","doi-asserted-by":"publisher","DOI":"10.1136\/vr.129.11.233"}],"container-title":["Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/royalsocietypublishing.org\/doi\/pdf\/10.1098\/rstb.1994.0031","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/royalsocietypublishing.org\/rstb\/article-pdf\/343\/1306\/371\/83185\/rstb.1994.0031.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/royalsocietypublishing.org\/rstb\/article-pdf\/343\/1306\/371\/83185\/rstb.1994.0031.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T12:17:52Z","timestamp":1767356272000},"score":1,"resource":{"primary":{"URL":"https:\/\/royalsocietypublishing.org\/rstb\/article\/343\/1306\/371\/18571\/Molecular-genetics-of-human-prion-diseases"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3,29]]},"references-count":67,"journal-issue":{"issue":"1306","published-print":{"date-parts":[[1994,3,29]]}},"URL":"https:\/\/doi.org\/10.1098\/rstb.1994.0031","relation":{},"ISSN":["0962-8436","1471-2970"],"issn-type":[{"value":"0962-8436","type":"print"},{"value":"1471-2970","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3,29]]}}}