{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T06:05:20Z","timestamp":1773900320349,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","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>Genetic Creutzfeldt\u2010Jakob disease (gCJD) with a V180I mutation (V180I gCJD) is the most common type of gCJD in Japan, characterized by an older age at onset, slower progression, and moderate to severe cortical degeneration with spongiform changes and sparing of the brainstem and cerebellum. Degeneration of the inferior olivary nucleus (IO) is rarely observed in patients with CJD but is known to occur in fatal familial insomnia (FFI) and MM2\u2010thalamic\u2010type sporadic CJD (sCJD\u2010MM2T) involving type 2 prion protein (M2T prion). Here we report on an 81\u2010year\u2010old Japanese woman who initially developed depressive symptoms followed by progressive cognitive impairment, myoclonus, and hallucinations and died after a clinical course of 23\u2009months. Insomnia was not evident. Genetic analysis of the prion protein (PrP) identified a V180I mutation with methionine\/valine heterozygosity at codon 129. Pathologic analysis demonstrated extensive spongiform degeneration, neuronal loss in the cortices, and weak synaptic\u2010type PrP deposition. Except for IO degeneration, the clinicopathologic features and Western blotting PrP band pattern were compatible with those of previously reported V180I gCJD cases. Quantitative analysis revealed that the neuronal density of the IO, especially in the dorsal area, was considerably reduced to the same extent as that of a patient with sCJD\u2010MM2T but preserved in other patients with V180I gCJD and sCJD\u2010MM1 (this patient, 2.3\u2009\u00b1\u20090.53\/mm<jats:sup>2<\/jats:sup>; a patient with sCJD\u2010MM2T, 4.2\u2009\u00b1\u20092; a patient with V180I gCJD, 60.5\u2009\u00b1\u20099.3; and a patient with sCJD\u2010MM1, 84.5\u2009\u00b1\u200917.9). Use of the protein misfolding cyclic amplification (PMCA) method confirmed the presence of the M2T prion strain, suggesting that the latter might be associated with IO degeneration in V180I gCJD. Autopsy studies are necessary to better understand the nature of CJD, since even if patients present with the common clinical picture, pathologic analysis might provide new insights, as was the case here.<\/jats:p>","DOI":"10.1111\/neup.12908","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T05:54:58Z","timestamp":1683784498000},"page":"479-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>V180I<\/scp> genetic <scp>Creutzfeldt\u2010Jakob<\/scp> disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the <scp>M2T<\/scp> prion strain"],"prefix":"10.1111","volume":"43","author":[{"given":"Midori","family":"Watanabe","sequence":"first","affiliation":[{"name":"Department of Pathology Brain Research Institute, Niigata University  Niigata Japan"},{"name":"Undergraduate Course, Niigata University School of Medicine  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosei","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology NHO Nishiniigata Chuo Hospital  Niigata Japan"},{"name":"Department of Neurology Brain Research Institute, Niigata University  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7294-5183","authenticated-orcid":false,"given":"Rie","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Pathology Brain Research Institute, Niigata University  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Neurological Science Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology NHO Nishiniigata Chuo Hospital  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuyuki","family":"Kitamoto","sequence":"additional","affiliation":[{"name":"Department of Neurological Science Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Onodera","sequence":"additional","affiliation":[{"name":"Department of Neurology Brain Research Institute, Niigata University  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiyoshi","family":"Kakita","sequence":"additional","affiliation":[{"name":"Department of Pathology Brain Research Institute, Niigata University  Niigata 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