{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T06:13:10Z","timestamp":1769667190557,"version":"3.49.0"},"reference-count":35,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer's Disease Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    We report a novel\n                    <jats:italic toggle=\"yes\">PSEN1<\/jats:italic>\n                    likely pathogenic variant associated with spastic paraparesis (SP) preceding cognitive decline. A 41-year-old man with a two-year history of SP followed by cognitive impairment one year later, was found to carry a heterozygous\n                    <jats:italic toggle=\"yes\">PSEN1<\/jats:italic>\n                    c.668A\u2009&gt;\u2009T (p.Gln223Leu) variant. Alzheimer's disease (AD) was confirmed with a combination of low CSF A\u03b2\n                    <jats:sub>42<\/jats:sub>\n                    levels and amyloid positivity on [\n                    <jats:sup>18<\/jats:sup>\n                    F]Florbetaben PET. This case represents the third reported association between substitutions at\n                    <jats:italic toggle=\"yes\">PSEN1<\/jats:italic>\n                    codon 223 and AD with SP, emphasizing the need to consider\n                    <jats:italic toggle=\"yes\">PSEN1<\/jats:italic>\n                    mutations in cases of SP preceding cognitive decline.\n                  <\/jats:p>","DOI":"10.1177\/25424823261419068","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T17:30:31Z","timestamp":1769621431000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel PSEN1 (p.Gln223Leu) variant associated with spastic paraparesis and early-onset Alzheimer's disease"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9965-4626","authenticated-orcid":false,"given":"Hyuk-je","family":"Lee","sequence":"first","affiliation":[{"name":"Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3914-0791","authenticated-orcid":false,"given":"Hansol","family":"Im","sequence":"additional","affiliation":[{"name":"Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1135-3392","authenticated-orcid":false,"given":"Bora","family":"Yoon","sequence":"additional","affiliation":[{"name":"Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5642-5401","authenticated-orcid":false,"given":"YongSoo","family":"Shim","sequence":"additional","affiliation":[{"name":"St Vincent's Hospital, College of Medicine, The Catholic University of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0084-0216","authenticated-orcid":false,"given":"Dongju","family":"Won","sequence":"additional","affiliation":[{"name":"Severance Hospital, Yonsei University College of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0040-7236","authenticated-orcid":false,"given":"Jung Hwan","family":"Lee","sequence":"additional","affiliation":[{"name":"Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,1,28]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.10.007"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2016.01.012"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms231810970"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70332-1"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1618657114"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaf294"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24098417"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000512"},{"key":"e_1_3_3_10_2","volume-title":"Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV)","author":"Wechsler D","year":"2008","unstructured":"Wechsler D. 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Korean J Rehabil Psychol 2001; 8: 29\u201348.","journal-title":"Korean J Rehabil Psychol"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/alz.13859"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature14892"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2021.695808"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/WAD.0b013e318251d87c"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02810.x"},{"key":"e_1_3_3_18_2","article-title":"Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease","volume":"13","author":"Chelban V","year":"2021","unstructured":"Chelban V, Breza M, Szaruga M, et al. Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease. 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