{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:40:48Z","timestamp":1791999648315,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T00:00:00Z","timestamp":1685404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["JP16H06277"],"award-info":[{"award-number":["JP16H06277"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP20dm0107103"],"award-info":[{"award-number":["JP20dm0107103"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>The typical clinical manifestations of sporadic Creutzfeldt\u2010Jakob disease (sCJD) are rapid\u2010progressive dementia and myoclonus. However, the diagnosis of atypical sCJD can be challenging due to its wide phenotypic variations. We report an autopsy case of variably protease\u2010sensitive prionopathy (VPSPr) with Met\/Met homogeneity at codon 129. An 81\u2010year\u2010old woman presented with memory loss without motor symptoms. Seventeen months after the onset, her spontaneous language production almost disappeared. Diffusion\u2010weighted images (DWI) showed hyperintensity in the cerebral cortex while electroencephalogram (EEG) showed nonspecific change. 14\u20103\u20103 protein and real\u2010time qualing\u2010induced conversion (RT\u2010QuIC) of cerebrospinal fluid were negative. She died at age 85, 3.5\u2009years after the onset. Pathological investigation revealed spongiform change, severe neuronal loss, and gliosis in the cerebral cortex. Mild to moderate neuronal loss and gliosis were observed in the basal ganglia. PrP immunostaining revealed plaque\u2010like, dotlike, and synaptic structures in the cerebral cortex and small plaque\u2010like structures in the molecular layer of the cerebellum. Analysis of <jats:italic>PRNP<\/jats:italic> showed no pathogenic mutations, and Western blot examination revealed the lack of a diglycosylated band consistent with VPSPr. The present case, which is the first report on a VPSPr case in Japan, supports previously published evidence that VPSPr cases can present variable and nonspecific clinical presentations. Because a small number of VPSPr cases can show typical magnetic resonance imaging (MRI) change in sCJD. We should investigate the possibility of VPSPr in a differential diagnosis with atypical dementia that presented DWIs of high intensity in the cortex, even though 14\u20103\u20103 proteins and RT\u2010QuIC are both negative. In addition, VPSPr cases can take a longer clinical course compared to that of sCJD, and long\u2010term follow\u2010up is important.<\/jats:p>","DOI":"10.1111\/neup.12911","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T04:15:18Z","timestamp":1685506518000},"page":"486-495","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["An autopsy case of variably protease\u2010sensitive prionopathy with Met\/Met homogeneity at codon 129"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7792-4832","authenticated-orcid":false,"given":"Akiko","family":"Uchino","sequence":"first","affiliation":[{"name":"Department of Preventive Medical Center Kitasato University Kitasato Institute Hospital  Tokyo Japan"},{"name":"Department of Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Institute for Geriatrics and Gerontology  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine National Center Hospital, National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saori","family":"Oonuma","sequence":"additional","affiliation":[{"name":"Department of Neurology NHO Sagamihara National Hospital  Sagamihara\u2010shi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9709-5242","authenticated-orcid":false,"given":"Shigeo","family":"Murayama","sequence":"additional","affiliation":[{"name":"Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders, United Graduate School of Child Development &amp; Department of Neurology, Graduate School of Medicine Osaka University  Osaka Japan"},{"name":"Department of Neurology and Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Geriatric Hospital &amp; Institute of Gerontology  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saburo","family":"Yagishita","sequence":"additional","affiliation":[{"name":"Department of Neurology NHO Sagamihara National Hospital  Sagamihara\u2010shi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuyuki","family":"Kitamoto","sequence":"additional","affiliation":[{"name":"Department of Neurological Science Tohoku University School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuko","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Neurology NHO Sagamihara National Hospital  Sagamihara\u2010shi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,30]]},"reference":[{"key":"e_1_2_11_2_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_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21420"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22094"},{"key":"e_1_2_11_5_1","first-page":"175","volume-title":"Handbook of Clinical Neurology","author":"Notari S","year":"2018"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.115444"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0242-5"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.175646"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-10-99"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70063-7"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-6-348"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws366"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1309-8"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309871"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.632"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12538"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNN.0000000000000276"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/v14020367"},{"key":"e_1_2_11_19_1","first-page":"153","article-title":"Clinical and differential diagnosis of Creutzfeldt\u2010Jakob disease","volume":"16","author":"Poser S","year":"2000","journal-title":"Arch Virol Suppl"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0779-6"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(86)90602-5"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308809"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/63.9.911"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-006-0111-7"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/pathogens2030457"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232315172"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010086"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-017-1683-0"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-10922-w"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01192.x"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12047"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2009.01048.x"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1371\/annotation\/5391f30a-0875-4145-a1ea-74aedbbcd1e4"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl159"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/353801b0"},{"key":"e_1_2_11_36_1","unstructured":"The Creutzfeldt\u2010Jakob Disease Surveillance Committee Japan. 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