{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T16:55:33Z","timestamp":1788281733407,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,1,7]],"date-time":"2018-01-07T00:00:00Z","timestamp":1515283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>This report presents the clinical course, neuropathology and ultrastructure of neuronal tau inclusions of four Slovene relatives with P364S <jats:italic><jats:styled-content style=\"fixed-case\">MAPT<\/jats:styled-content><\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical history of three out of four P364S <jats:italic><jats:styled-content style=\"fixed-case\">MAPT<\/jats:styled-content><\/jats:italic> mutation carriers was taken. After formalin fixation, thorough sampling of the central nervous system was followed by paraffin embedding, H&amp;E, Gallyas, Bielschowsky and immunostaining with <jats:styled-content style=\"fixed-case\">AT<\/jats:styled-content>8, anti\u20103R, anti\u20104R tau, anti\u2010amyloid\u2010\u03b2, anti\u2010<jats:styled-content style=\"fixed-case\">TDP<\/jats:styled-content>43 and anti\u2010alpha\u2010synuclein antibodies. The distribution and density of different types of neuronal tau inclusions were semiquantitatively assessed. In addition, the ultrastructure of neuronal tau inclusions was analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Macroscopic examination of the brains was unremarkable. Microscopically, neuronal tau inclusions of almost all known types were widespread and distributed fairly uniformly in all cases. Pick bodies and swollen neurones were found in only one family member. Mutant tau was composed of 3R and 4R isoforms, with a slight predominance of 3R tau. Composite neuronal tau inclusion (<jats:styled-content style=\"fixed-case\">CNTI<\/jats:styled-content>), found in all four relatives, was a hallmark of the P364S <jats:italic><jats:styled-content style=\"fixed-case\">MAPT<\/jats:styled-content><\/jats:italic> mutation. <jats:styled-content style=\"fixed-case\">CNTI<\/jats:styled-content> showed compartmental differences in H&amp;E and Gallyas staining, tau isoforms immunolabelling and ultrastructure, displaying fuzzy fibrils in the core and paired twisted tubules at the periphery.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>P364S <jats:italic><jats:styled-content style=\"fixed-case\">MAPT<\/jats:styled-content><\/jats:italic> mutation is characterized clinically by a variable combination of frontotemporal dementia, parkinsonism and motor neurone disease of short duration, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member. Two\u2010compartment <jats:styled-content style=\"fixed-case\">CNTI<\/jats:styled-content> is a unique characteristic of the P364S <jats:italic><jats:styled-content style=\"fixed-case\">MAPT<\/jats:styled-content><\/jats:italic> mutation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nan.12456","type":"journal-article","created":{"date-parts":[[2017,12,7]],"date-time":"2017-12-07T14:13:06Z","timestamp":1512655986000},"page":"550-562","source":"Crossref","is-referenced-by-count":17,"title":["Familial tauopathy with P364S <i><scp>MAPT<\/scp><\/i> mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8715-6934","authenticated-orcid":false,"given":"P.","family":"\u0160trafela","sequence":"first","affiliation":[{"name":"Department of Pathology University Clinical Centre Maribor Maribor Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ple\u0161ko","sequence":"additional","affiliation":[{"name":"Institute of Pathology Faculty of Medicine University of Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Magdi\u010d","sequence":"additional","affiliation":[{"name":"Clinic of Neurology University Clinical Centre Maribor Maribor Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Koritnik","sequence":"additional","affiliation":[{"name":"Institute of Neurophysiology University Clinical Centre Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Zupan","sequence":"additional","affiliation":[{"name":"Institute of Pathology Faculty of Medicine University of Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Glava\u010d","sequence":"additional","affiliation":[{"name":"Institute of Pathology Faculty of Medicine University of Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bresjanac","sequence":"additional","affiliation":[{"name":"LNPR Institute of Pathophysiology Faculty of Medicine University of Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Popovi\u0107","sequence":"additional","affiliation":[{"name":"Institute of Pathology Faculty of Medicine University of Ljubljana Ljubljana Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/9781444341256","volume-title":"Neurodegeneration: The molecular pathology of dementia and movement disorders","author":"Dickson DW","year":"2011"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12208"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-30"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410606"},{"key":"e_1_2_10_6_1","unstructured":"Alzforum mutations database. 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