{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:27:52Z","timestamp":1790044072865,"version":"4.0.1"},"reference-count":55,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,9,21]],"date-time":"2018-09-21T00:00:00Z","timestamp":1537488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Gerstmann\u2013Str\u00e4ussler\u2013Scheinker disease P105L (GSS105) is a rare variant of GSS caused by a point mutation of the prion protein (PrP) gene at codon 105 (proline to leucine substitution). It is clinically characterized by spastic paraparesis and dementia and histopathologically defined by PrP\u2010plaques in the brain. This report describes a clinicopathological analysis of three autopsied kindred from a Japanese GSS105 family, plus a topological analysis of PrP, hyperphosphorylated tau (p\u2010tau), and beta\u2010amyloid (A\u03b2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using paraffin\u2010embedded sections, we applied histology and single\u2010 and multiple\u2010labeling immunohistochemistry for PrP, p\u2010tau, and A\u03b2 to the three cases. Comparative semi\u2010quantitative analyses of tissue injuries and PrP\u2010plaques were also employed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Case 1 (45\u00a0years old (yo)) and Case 2 (56 yo) are sisters, and Case 3 (49 yo) is the son of Case 2. Case 1 and Case 2 presented with spastic paraparesis followed by dementia, whereas Case 3 presented, not with spastic paraparesis, but with psychiatric symptoms. In Case 1 and Case 2, the brain showed tissue injuries with many PrP\u2010plaques in the cerebral cortices, and the pyramidal tract showed myelin loss\/pallor. In Case 3, the brain was least degenerated with a number of PrP\u2010plaques; however, the pyramidal tract remained intact. In addition, p\u2010tau was deposited in all cases, where p\u2010tau was present in or around PrP\u2010plaques. By double\u2010labeling immunohistochemistry, the colocalization of p\u2010tau with PrP\u2010plaques was confirmed. Moreover in Case 2, A\u03b2 was deposited in the cerebral cortices. Interestingly, not only p\u2010tau but also A\u03b2 was colocalized with PrP\u2010plaques. In all cases, both three repeat tau and four repeat tau were associated with PrP\u2010plaques.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The clinicopathological diversity of GSS105, which is possible even in the same family, was ascertained. Not only p\u2010tau but also A\u03b2 could be induced by PrP (\u201csecondary degeneration\u201d), facilitating the kaleidoscopic symptoms of GSS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1117","type":"journal-article","created":{"date-parts":[[2018,9,22]],"date-time":"2018-09-22T02:45:51Z","timestamp":1537584351000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["An autopsy report of three kindred in a Gerstmann\u2013Str\u00e4ussler\u2013Scheinker disease P105L family with a special reference to prion protein, tau, and beta\u2010amyloid"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4751-7691","authenticated-orcid":false,"given":"Keisuke","family":"Ishizawa","sequence":"first","affiliation":[{"name":"Department of Neurology Saitama Medical University Saitama Japan"},{"name":"Department of Pathology Saitama Medical University Saitama 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