{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:09:44Z","timestamp":1791011384980,"version":"4.1.0"},"reference-count":30,"publisher":"National Academy of Sciences","issue":"14","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1998,7,7]]},"abstract":"<jats:p>\n                    The clinicopathological phenotype of the Gerstmann\u2013Str\u00e4ussler\u2013Scheinker disease (GSS) variant linked to the codon 102 mutation in the prion protein (PrP) gene (GSS P102L) shows a high heterogeneity. This variability also is observed in subjects with the same prion protein gene\n                    <jats:italic>PRNP<\/jats:italic>\n                    haplotype and is independent from the duration of the disease. Immunoblot analysis of brain homogenates from GSS P102L patients showed two major protease-resistant PrP fragments (PrP-res) with molecular masses of \u224821 and 8 kDa, respectively. The 21-kDa fragment, similar to the PrP-res type 1 described in Creutzfeldt\u2013Jakob disease, was found in five of the seven subjects and correlated with the presence of spongiform degeneration and \u201csynaptic\u201d pattern of PrP deposition whereas the 8-kDa fragment, similar to those described in other variants of GSS, was found in all subjects in brain regions showing PrP-positive multicentric amyloid deposits. These data further indicate that the neuropathology of prion diseases largely depends on the type of PrP-res fragment that forms\n                    <jats:italic>in vivo<\/jats:italic>\n                    . Because the formation of PrP-res fragments of 7\u20138 kDa with ragged N and C termini is not a feature of Creutzfeldt\u2013Jakob disease or fatal familial insomnia but appears to be shared by most GSS subtypes, it may represent a molecular marker for this disorder.\n                  <\/jats:p>","DOI":"10.1073\/pnas.95.14.8322","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:39:15Z","timestamp":1027679955000},"page":"8322-8327","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":183,"title":["Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann\u2013Str\u00e4ussler\u2013Scheinker disease"],"prefix":"10.1073","volume":"95","author":[{"given":"Piero","family":"Parchi","sequence":"first","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu G.","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Brown","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenquan","family":"Zou","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. 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Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Hainfellner","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricio F.","family":"Reyes","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory T.","family":"Golden","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean J.","family":"Hauw","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Carleton","family":"Gajdusek","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. 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