{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T00:34:01Z","timestamp":1700267641425},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T00:00:00Z","timestamp":1344211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>We describe an atypical neuropatholgical phenotype of sporadic Creutzfeldt\u2010Jakob disease (sCJD) in a 64\u2010year\u2010old man presenting with a 5\u2010month history of rapidly progressive dementia, comprising behavioral disturbances, memory complaints, disorientation and language alterations. MRI showed diffuse atrophy and hyperintensities in parietal, occipital, temporal and frontal cortices and left caudate nucleus on T2\u2010weighted and fluid\u2010attenuated inversion recovery images. No typical EEG alterations were observed. Repeated 14\u20103\u20103 assay was positive after a first negative test. Neuropathology showed classical CJD changes with small cortical foci of large confluent vacuoles and relatively well\u2010preserved cerebellar cortex. The most striking feature was the presence of abundant Kuru\u2010type plaques in both cerebral cortex and subcortical white matter. Sparse Kuru\u2010type plaques were also seen in cerebellum, although only in white matter. Immunohistochemistry showed, in addition to unicentric plaques, diffuse synaptic and patchy perivacuolar, as well as plaque\u2010like and periaxonal pathological prion protein deposits (PrP<jats:sup>res<\/jats:sup>). Western blot studies demonstrated the co\u2010occurrence of PrP<jats:sup>res<\/jats:sup> types 1 and 2 in frontal cortex and a relatively weak type 2 signal in cerebellum. <jats:italic>PRNP<\/jats:italic> genotyping revealed methionine homozygosity at codon 129 and excluded mutations. This case shows a previously undescribed combination of histopathological features which preclude its classification according to the current phenotypic and molecular sCJD classification. The observation demonstrates that Kuru\u2010type amyloid plaques mainly involving the cerebral white matter may also occur in sCJD cases with short clinical course and the co\u2010existence of PrP<jats:sup>res<\/jats:sup> types 1 and 2. This case further highlights the complexity of the correlations between histopathological phenotype and PrP<jats:sup>res<\/jats:sup> isotype in prion diseases.<\/jats:p>","DOI":"10.1111\/j.1440-1789.2012.01341.x","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T04:23:06Z","timestamp":1344226986000},"page":"204-208","source":"Crossref","is-referenced-by-count":7,"title":["Atypical neuropathological sCJD\u2010MM phenotype with abundant white matter Kuru\u2010type plaques sparing the cerebellar cortex"],"prefix":"10.1111","volume":"33","author":[{"given":"Ellen","family":"Gelpi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep Ma","family":"Soler Insa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piero","family":"Parchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Saverioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Yag\u00fce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Nos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Mart\u00ednez\u2010 Saez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Ribalta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isidre","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"Sanchez\u2010Valle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,8,6]]},"reference":[{"key":"e_1_2_6_2_2","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_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0585-1"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000044403.41041.A4"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-008-0425-8"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.4.595"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2008.00187.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390613"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22094"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M704597200"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1440-1789.2012.01341.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1440-1789.2012.01341.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T07:06:16Z","timestamp":1697267176000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1440-1789.2012.01341.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,6]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1111\/j.1440-1789.2012.01341.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1440-1789.2012.01341.x","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,6]]}}}