{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:16:46Z","timestamp":1789755406344,"version":"4.0.1"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,11,27]],"date-time":"2013-11-27T00:00:00Z","timestamp":1385510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2014,3]]},"abstract":"Abstract<\/jats:title>Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein (PrP<\/jats:styled-content>) gene (PRNP<\/jats:italic><\/jats:styled-content>). In subjects carrying the D<\/jats:styled-content>178N PRNP<\/jats:italic><\/jats:styled-content> mutation, distinct phenotypes can be observed, depending on the methionine\/valine codon 129 polymorphism. We present here a 53\u2010year\u2010old woman with D<\/jats:styled-content>178N<\/jats:styled-content> mutation in the PRNP<\/jats:italic><\/jats:styled-content> gene and homozygosity for valine at codon 129. The disease started at age 47 with memory deficits, progressive cognitive impairment and ataxia. The clinical picture slowly worsened to a state of akinetic mutism in about 2 years and the disease course was 6 years. The neuropathologic examination demonstrated severe diffuse cerebral atrophy with neuronal loss, spongiosis and marked myelin loss and tissue rarefaction in the hemispheric white matter, configuring panencephalopathic C<\/jats:styled-content>reutzfeldt\u2010J<\/jats:styled-content>akob disease. PrP<\/jats:styled-content> deposition was present in the cerebral cortex, basal ganglia and cerebellum with diffuse synaptic\u2010type pattern of immunoreactivity and clusters of countless, small PrP<\/jats:styled-content> deposits, particularly evident in the lower cortical layers, in the striatum and in the molecular layer of the cerebellum. Western blot analysis showed the presence of type 1 PrPSc<\/jats:sup><\/jats:styled-content> (P<\/jats:styled-content>archi classification). These findings underline the clear\u2010cut distinction between the neuropathological features of C<\/jats:styled-content>reutzfeldt\u2010J<\/jats:styled-content>akob disease associated with D<\/jats:styled-content>178N PRNP<\/jats:italic><\/jats:styled-content> mutation and those of fatal familial insomnia.<\/jats:p>","DOI":"10.1111\/bpa.12095","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T02:26:33Z","timestamp":1381544793000},"page":"148-151","source":"Crossref","is-referenced-by-count":7,"title":["Panencephalopathic C<\/scp>reutzfeldt\u2010J<\/scp>akob Disease with Distinct Pattern of Prion Protein Deposition in a Patient with D<\/scp>178N<\/scp> Mutation and Homozygosity for Valine at Codon 129 of the Prion Protein Gene"],"prefix":"10.1111","volume":"24","author":[{"given":"Gabriella","family":"Marcon","sequence":"first","affiliation":[{"name":"Department of Biological and Medical Sciences (DSMB) University of Udine Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Indaco","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Di Fede","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Suardi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Finato","sequence":"additional","affiliation":[{"name":"Department of Biological and Medical Sciences (DSMB) University of Udine Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentino","family":"Moretti","sequence":"additional","affiliation":[{"name":"Hospital of San Daniele San Daniele (Udine) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Micoli","sequence":"additional","affiliation":[{"name":"ASL4 Medio Friuli Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Fociani","sequence":"additional","affiliation":[{"name":"Department of Pathology Sacco Hospital University Milano Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Zerbi","sequence":"additional","affiliation":[{"name":"Department of Pathology Sacco Hospital University Milano Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Pincherle","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Redaelli","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Tagliavini","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Giaccone","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0760-4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2008.09.008"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2000.tb00240.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01192.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2008.01004a.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198610163151605"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.20025"}],"container-title":["Brain Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbpa.12095","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bpa.12095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T03:30:08Z","timestamp":1696303808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bpa.12095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,27]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1111\/bpa.12095"],"URL":"https:\/\/doi.org\/10.1111\/bpa.12095","archive":["Portico"],"relation":{},"ISSN":["1015-6305","1750-3639"],"issn-type":[{"value":"1015-6305","type":"print"},{"value":"1750-3639","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,27]]}}}