{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T00:27:37Z","timestamp":1765844857293,"version":"3.48.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T00:00:00Z","timestamp":1760227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    A 78\u2010year\u2010old man presented with a six\u2010year history of progressive memory decline, initially manifesting as recent memory impairment and mild anomia, which gradually evolved into motor clumsiness, gait disturbances, language difficulties, behavioral changes, and late\u2010onset parkinsonism. He had been diagnosed with Paget disease of bone (PDB) at the age of 45. Brain MRI revealed asymmetric left anterior temporal atrophy, while [\n                    <jats:sup>18<\/jats:sup>\n                    F]\u2010Fluorodeoxyglucose (FDG) PET demonstrated frontotemporal hypometabolism, predominantly on the left side, with marked involvement of both temporal poles and greater hypometabolism in the left temporal pole. A negative amyloid PET scan supported a diagnosis of frontotemporal dementia (FTD). Genetic analysis identified an\n                    <jats:italic>SQSTM1<\/jats:italic>\n                    gene mutation (c.1210A&gt;G; p.(Met404Val)). Post\u2010mortem examination confirmed frontotemporal lobar degeneration with atypical TDP\u201043 protein distribution, alongside tau and Lewy body pathology. This case exemplifies an atypical presentation of FTD, characterized by amnestic onset with subsequent language and behavioral involvement, thereby broadening the recognized clinical spectrum of\n                    <jats:italic>SQSTM1<\/jats:italic>\n                    \u2010associated FTD. The coexistence of parkinsonism and PDB, alongside mixed proteinopathies, underscores the phenotypic heterogeneity of\n                    <jats:italic>SQSTM1<\/jats:italic>\n                    mutations. These findings emphasize the importance of considering prominent memory impairment, semantic deficits, and parkinsonism as potential manifestations in this genetic form and highlight the need for comprehensive clinical, genetic, and neuropathological evaluation to improve diagnosis and inform therapeutic strategies.\n                  <\/jats:p>","DOI":"10.1111\/neup.70029","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T06:35:42Z","timestamp":1760337342000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical Frontotemporal Dementia Associated With\n                    <i>SQSTM1<\/i>\n                    Gene Mutation: A Clinicopathological Case"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1905-421X","authenticated-orcid":false,"given":"Christian","family":"Espinoza\u2010Vinces","sequence":"first","affiliation":[{"name":"Department of Neurology Cl\u00ednica Universidad de Navarra  Pamplona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Victoria Zelaya","family":"Huerta","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital of Navarra  Pamplona Spain"},{"name":"Brain Bank of Navarra Navarrabiomed, Fundaci\u00f3n Miguel Servet  Pamplona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valle Coca","family":"Pueyo","sequence":"additional","affiliation":[{"name":"Brain Bank of Navarra Navarrabiomed, Fundaci\u00f3n Miguel Servet  Pamplona 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