{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:55:13Z","timestamp":1760237713279,"version":"build-2065373602"},"reference-count":36,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,6,14]],"date-time":"2020-06-14T00:00:00Z","timestamp":1592092800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2020R1A2B5B01002463","2019R1G1A109740012"],"award-info":[{"award-number":["2020R1A2B5B01002463","2019R1G1A109740012"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer\u2019s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed diffuse atrophy in the fronto-parietal regions. In addition, 18F-fludeoxyglucose positron emission tomography (FDG-PET) showed reduced tracer uptake in the parietal and temporal cortices, bilaterally. The second patient developed memory dysfunction at the age of 49, and his mother was also affected. Amyloid positron emission tomography (PET) was positive, but MRI scans did not reveal any atrophy. Targeted NGS and Sanger sequencing identified a heterozygous C to T exchange in PSEN1 exon 5 (c.356C&gt;T), resulting in a p.Thr119Ile mutation. The mutation is located in the conserved HL-I loop, where several Alzheimer\u2019s disease (AD) related mutations have been described. Structure analyses suggested that Thr119Ile mutation may result in a significant change inside conservative loop. Additional in vitro studies are needed to estimate the role of the PSEN1 Thr119Ile in AD disease progression.<\/jats:p>","DOI":"10.3390\/diagnostics10060405","type":"journal-article","created":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T03:17:32Z","timestamp":1592191052000},"page":"405","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer\u2019s Disease"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0487-8668","authenticated-orcid":false,"given":"Eva","family":"Bagyinszky","sequence":"first","affiliation":[{"name":"Department of Industrial and Environmental Engineering, Graduate School of Environment Gachon University, Seongnam 13120, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gachon University Gil Medical Center, Incheon 21565, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8391-5729","authenticated-orcid":false,"given":"Jung Min","family":"Pyun","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University College of Medicine &amp; Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam 13620, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeewon","family":"Suh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University College of Medicine &amp; Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam 13620, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7736-6073","authenticated-orcid":false,"given":"Min Ju","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Veterans Medical Research Institute, Veterans Health Service Medical Center, Seoul 05368, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9937-7865","authenticated-orcid":false,"given":"Van Giau","family":"Vo","sequence":"additional","affiliation":[{"name":"Institute of Research and Development, Duy Tan University, Danang 550000, Vietnam"},{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seong Soo A.","family":"An","sequence":"additional","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kee Hyung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Gachon University Gil Medical Center, Incheon 21565, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SangYun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University College of Medicine &amp; Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam 13620, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,6,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.jalz.2016.01.012","article-title":"Molecular genetics of early-onset Alzheimer\u2019s disease revisited","volume":"12","author":"Cacace","year":"2016","journal-title":"Alzheimer\u2019s Dement."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nrm2101","article-title":"Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer\u2019s amyloid \u03b2-peptide","volume":"8","author":"Haass","year":"2007","journal-title":"Nat. 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