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We performed a next generation sequencing dementia-gene panel and found the c.1301\u200aC&gt;T p.(Ala434Val) variant in the Presenilin1 ( PSEN1) gene. The missense change affects the PAL (Pro433-Ala434-Leu435) motif critical for catalytic activity of the macromolecular \u03b3-secretase complex. Evolutionary and integrated bioinformatic tools predicted a deleterious effect of the variant supporting its role in the AD pathogenesis.<\/jats:p>","DOI":"10.3233\/adr230023","type":"journal-article","created":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T10:56:58Z","timestamp":1684234618000},"page":"469-473","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel\n                    <i>PSEN1<\/i>\n                    Variant Leading to Posterior Cortical Atrophy: A Case Report"],"prefix":"10.1177","volume":"7","author":[{"given":"Fausto","family":"Roveta","sequence":"first","affiliation":[{"name":"Aging Brain and Memory Clinic, Department of Neuroscience, University of Torino, Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Marcinn\u00f2","sequence":"additional","affiliation":[{"name":"Aging Brain and Memory Clinic, Department of Neuroscience, 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