{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:49:40Z","timestamp":1777394980097,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,1,19]]},"abstract":"<jats:p>Genetics has a major role in early-onset dementia, but the correspondence between genotype and phenotype is largely tentative. We describe a 54-year-old with familial early-onset slowly-progressive episodic memory impairment with the P392L-variant in SQSTM1. The patient showed cortical atrophy and hypometabolism in the temporal lobes, but no amyloidosis biomarkers. As symptoms\/neuroimaging were suggestive for Alzheimer\u2019s disease\u2014but biomarkers were not\u2014and considering the family-history, genetic analysis was performed, revealing the P392L-variant in SQSTM1, which encodes for sequestosome-1\/p62. Increasing evidence suggests a p62 involvement in neurodegeneration and SQSTM1 mutations have been found to cause amyotrophic lateral sclerosis\/frontotemporal dementia. Our report suggests that the clinical spectrum of SQSTM1 variants is wider.<\/jats:p>","DOI":"10.3233\/jad-201231","type":"journal-article","created":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T23:31:24Z","timestamp":1607470284000},"page":"477-481","source":"Crossref","is-referenced-by-count":4,"title":["Detection of the SQSTM1 Mutation in a Patient with Early-Onset Hippocampal Amnestic Syndrome"],"prefix":"10.1177","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0568-7580","authenticated-orcid":false,"given":"Tiziana","family":"Carandini","sequence":"first","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Sacchi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"},{"name":"University of Milan, Dino Ferrari Center, Milan, 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