{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:10:18Z","timestamp":1769598618318,"version":"3.49.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,4,25]],"date-time":"2013-04-25T00:00:00Z","timestamp":1366848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most of the mutations in the presenilin\u20101 gene (<jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content>\u20101) are associated with familial <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>lzheimer's disease (<jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>). However, certain examples can be associated with frontotemporal dementia (<jats:styled-content style=\"fixed-case\">FTD<\/jats:styled-content>). We performed a clinical evaluation of individuals belonging to a family with the <jats:styled-content style=\"fixed-case\">FTD<\/jats:styled-content> phenotype, and additional molecular studies and neuropathological assessment of the proband. The <jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content>\u20101 <jats:styled-content style=\"fixed-case\">M146V<\/jats:styled-content> mutation was found in the 50\u2010year\u2010old subject (the proband) with family history of early\u2010onset <jats:styled-content style=\"fixed-case\">FTD<\/jats:styled-content>. Neuropathological examination showed abundant amyloid plaques, widespread neurofibrillary pathology, <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ick bodies in the hippocampus and cortex, cortical globose tangles and ubiquitin\u2010positive nuclear inclusions in white matter oligodendrocytes. We report a kindred with clinical features of <jats:styled-content style=\"fixed-case\">FTD<\/jats:styled-content>, whose proband bore the <jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content>\u20101 <jats:styled-content style=\"fixed-case\">M146V<\/jats:styled-content> mutation and showed diffuse <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>lzheimer's type pathology and <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ick bodies on post\u2010mortem neuropathological examination. As with other mutations within the same codon, this substitution may predispose to both diseases by affecting <jats:styled-content style=\"fixed-case\">APP<\/jats:styled-content> and\/or tau processing.<\/jats:p>","DOI":"10.1111\/bpa.12051","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T23:12:12Z","timestamp":1363302732000},"page":"595-600","source":"Crossref","is-referenced-by-count":30,"title":["Familial Dementia With Frontotemporal Features Associated With <scp>M146V<\/scp> Presenilin\u20101 Mutation"],"prefix":"10.1111","volume":"23","author":[{"given":"Miguel A.","family":"Riudavets","sequence":"first","affiliation":[{"name":"Department of Neuropathology FLENI  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Bartoloni","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Hospital Zubizarreta  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan C.","family":"Troncoso","sequence":"additional","affiliation":[{"name":"Neuropathology Division Pathology Department Johns Hopkins University School of Medicine  Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Pletnikova","sequence":"additional","affiliation":[{"name":"Neuropathology Division Pathology Department Johns Hopkins University School of Medicine  Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"St. George\u2010Hyslop","sequence":"additional","affiliation":[{"name":"Tanz Centre for Research in Neurodegenerative Diseases University of Toronto  Toronto ON Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo","family":"Schultz","sequence":"additional","affiliation":[{"name":"Department of Neuropathology FLENI  Buenos Aires 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