{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:22:02Z","timestamp":1791231722039,"version":"4.1.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,10,1]]},"DOI":"10.1093\/brain\/awn202","type":"journal-article","created":{"date-parts":[[2008,8,30]],"date-time":"2008-08-30T20:25:41Z","timestamp":1220127941000},"page":"2632-2646","source":"Crossref","is-referenced-by-count":129,"title":["Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series"],"prefix":"10.1093","volume":"131","author":[{"given":"T. E. F.","family":"Webb","sequence":"first","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Poulter","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Beck","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Uphill","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Adamson","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Campbell","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Linehan","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Powell","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Brandner","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Pal","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Siddique","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. D.","family":"Wadsworth","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Joiner","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Alner","sequence":"additional","affiliation":[{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Petersen","sequence":"additional","affiliation":[{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hampson","sequence":"additional","affiliation":[{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Rhymes","sequence":"additional","affiliation":[{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Treacy","sequence":"additional","affiliation":[{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Storey","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neuroscience), Monash University, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. D.","family":"Geschwind","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, San Francisco (UCSF), San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. H.","family":"Nemeth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Churchill Hospital and Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wroe","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Collinge","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Mead","sequence":"additional","affiliation":[{"name":"MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology"},{"name":"National Prion Clinic and National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2008,9,1]]},"reference":[{"key":"key\n\t\t\t\t20180324094356_B1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1136\/jnnp.45.1.37","article-title":"Familial cerebral amyloidosis and spongiform encephalopathy","volume":"45","author":"Adam","year":"1982","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20180324094356_B2","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0140-6736(94)90691-2","article-title":"The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease","volume":"344","author":"Amouyel","year":"1994","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20180324094356_B3","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.1212\/01.wnl.0000218211.85675.18","article-title":"Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu)","volume":"66","author":"Arata","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180324094356_B4","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/bmj.291.6491.299","article-title":"Experimental transmission of an autosomal dominant spongiform encephalopathy: does the infectious agent originate in the human genome?","volume":"291","author":"Baker","year":"1985","journal-title":"Br Med J"},{"key":"key\n\t\t\t\t20180324094356_B5","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1212\/WNL.47.3.734","article-title":"Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation)","volume":"47","author":"Barbanti","year":"1996","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180324094356_B6","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1093\/brain\/awm320","article-title":"A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series","volume":"131","author":"Beck","year":"2008","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B7","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0003-3995(03)00017-0","article-title":"Gerstmann-Straussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset","volume":"46","author":"Bianca","year":"2003","journal-title":"Ann Genet"},{"key":"key\n\t\t\t\t20180324094356_B8","first-page":"435","article-title":"A familial neurological disease complex in a Bedfordshire community","volume":"24","author":"Cameron","year":"1974","journal-title":"J R Coll Gen Pract"},{"key":"key\n\t\t\t\t20180324094356_B9","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1146\/annurev.neuro.24.1.519","article-title":"Prion diseases of humans and animals: their causes and molecular basis","volume":"24","author":"Collinge","year":"2001","journal-title":"Annu Rev Neurosci"},{"key":"key\n\t\t\t\t20180324094356_B10","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1136\/jnnp.2004.048660","article-title":"Molecular neurology of prion disease","volume":"76","author":"Collinge","year":"2005","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20180324094356_B11","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1093\/brain\/115.3.687","article-title":"Inherited prion disease with 144 base pair gene insertion: II: clinical and pathological features","volume":"115","author":"Collinge","year":"1992","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B12","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1126\/science.1138718","article-title":"A general model of prion strains and their pathogenicity","volume":"318","author":"Collinge","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20180324094356_B13","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1126\/science.8346443","article-title":"Gene Dose of apolipoprotein-e type-4 allele and the risk of alzheimers-disease in late-onset families","volume":"261","author":"Corder","year":"1993","journal-title":"Science"},{"key":"key\n\t\t\t\t20180324094356_B14","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.10267","article-title":"Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy","volume":"52","author":"Dagvadorj","year":"2002","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180324094356_B15","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/ng0492-64","article-title":"Linkage of the Indiana kindred of Gerstmann-Str\u00e4ussler-Scheinker disease to the prion protein gene","volume":"1","author":"Dlouhy","year":"1992","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180324094356_B16","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1086\/302702","article-title":"High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes","volume":"66","author":"Finckh","year":"2000","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180324094356_B17","doi-asserted-by":"crossref","first-page":"2988","DOI":"10.1093\/hmg\/ddl241","article-title":"Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration","volume":"15","author":"Gass","year":"2006","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180324094356_B18","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/j.1750-3639.1995.tb00596.x","article-title":"The original Gerstmann-Straussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype","volume":"5","author":"Hainfellner","year":"1995","journal-title":"Brain Pathol"},{"key":"key\n\t\t\t\t20180324094356_B19","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1093\/brain\/awl013","article-title":"Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations","volume":"129","author":"Hill","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B20","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","year":"1989","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180324094356_B21","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1136\/jnnp.2006.094821","article-title":"Neuroimaging findings in human prion disease","volume":"78","author":"Macfarlane","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20180324094356_B22","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1093\/brain\/104.3.559","article-title":"Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Straussler syndrome with an analysis of the various forms of amyloid plaque deposition in the virus-induced spongiform encephalopathies","volume":"104","author":"Masters","year":"1981","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B23","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/sj.ejhg.5201544","article-title":"Prion disease genetics","volume":"14","author":"Mead","year":"2006","journal-title":"Eur J Human Genet"},{"key":"key\n\t\t\t\t20180324094356_B24","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1086\/324710","article-title":"Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP Exon 1","volume":"69","author":"Mead","year":"2001","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180324094356_B25","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/brain\/awl226","article-title":"Inherited prion disease with six octapeptide repeat insertional mutation\u2013molecular analysis of phenotypic heterogeneity","volume":"129","author":"Mead","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B26","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0304-3940(95)11366-5","article-title":"Allelic variation of apolipoprotein E in Japanese sporadic Creutzfeldt-Jakob disease patients","volume":"187","author":"Nakagawa","year":"1995","journal-title":"Neurosci Lett"},{"key":"key\n\t\t\t\t20180324094356_B27","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0140-6736(89)91713-3","article-title":"Insertion in prion protein gene in familial Creutzfeldt-Jakob disease","volume":"1","author":"Owen","year":"1989","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20180324094356_B28","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","year":"1991","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180324094356_B29","doi-asserted-by":"crossref","first-page":"8322","DOI":"10.1073\/pnas.95.14.8322","article-title":"Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Str\u00e4ussler-Scheinker disease","volume":"95","author":"Parchi","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180324094356_B30","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1097\/00005072-199810000-00010","article-title":"Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity","volume":"57","author":"Piccardo","year":"1998","journal-title":"J Neuropathol Exp Neurol"},{"key":"key\n\t\t\t\t20180324094356_B31","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1093\/brain\/115.3.675","article-title":"Inherited prion disease with 144 base pair gene insertion: I: genealogical and molecular studies","volume":"115","author":"Poulter","year":"1992","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B32","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1001\/archneur.1976.00500040036005","article-title":"Familial neurological disease associated with spongiform encephalopathy","volume":"33","author":"Rosenthal","year":"1976","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20180324094356_B33","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1212\/01.wnl.0000230159.67128.00","article-title":"CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease","volume":"67","author":"Sanchez-Juan","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180324094356_B34","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0304-3940(01)02264-9","article-title":"Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype","volume":"313","author":"Van Everbroeck","year":"2001","journal-title":"Neurosci Lett"},{"key":"key\n\t\t\t\t20180324094356_B35","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1136\/jmg.2006.040931","article-title":"Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study","volume":"43","author":"Vollmert","year":"2006","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180324094356_B36","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1093\/brain\/awl076","article-title":"Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein","volume":"129","author":"Wadsworth","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180324094356_B37","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/0092-8674(94)90177-5","article-title":"Degeneration of skeletal muscle, peripheral nerves and the central nervous system in transgenic mice overexpressing wild-type prion proteins","volume":"76","author":"Westaway","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180324094356_B38","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0169-328X(96)00251-3","article-title":"Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129","volume":"44","author":"Young","year":"1997","journal-title":"Mol Brain Res"},{"key":"key\n\t\t\t\t20180324094356_B39","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1001\/archneur.1996.00550120041014","article-title":"Apolipoprotein E phenotype frequency and cerebrospinal fluid concentration are not associated with Creutzfeldt-Jakob disease","volume":"53","author":"Zerr","year":"1996","journal-title":"Arch Neurol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/131\/10\/2632\/24475387\/awn202.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,24]],"date-time":"2018-03-24T09:47:24Z","timestamp":1521884844000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/131\/10\/2632\/1746525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,1]]},"references-count":39,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2008,9,1]]},"published-print":{"date-parts":[[2008,10,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awn202","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2008,10]]},"published":{"date-parts":[[2008,9,1]]}}}