{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T17:14:08Z","timestamp":1782407648471,"version":"3.54.5"},"reference-count":17,"publisher":"SAGE Publications","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2022,1,4]]},"abstract":"<jats:p>Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer\u2019s disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid\/Tau\/Neurodegeneration (ATN) biomarker profiles of both patients were A\u200a+\u200aT\u200a+\u200a(N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.<\/jats:p>","DOI":"10.3233\/jad-215167","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T13:20:57Z","timestamp":1636464057000},"page":"65-71","source":"Crossref","is-referenced-by-count":4,"title":["Very Early-Onset Alzheimer\u2019s Disease in the Third Decade of Life with de novo PSEN1 Mutations"],"prefix":"10.1177","volume":"85","author":[{"given":"Ke-Liang","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Xi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Min","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Fen","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan-Tao","family":"Zuo","sequence":"additional","affiliation":[{"name":"Positron Emission Tomography (PET) Center, Huashan Hospital, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Tai","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"key":"10.3233\/JAD-215167_ref1","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/S1474-4422(10)70159-9","article-title":"The diagnosis of young-onset 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