{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T09:02:04Z","timestamp":1766912524464,"version":"3.40.5"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,2,13]],"date-time":"2021-02-13T00:00:00Z","timestamp":1613174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005795","name":"Chang Gung Memorial Hospital, Linkou","doi-asserted-by":"publisher","award":["CMRPG3H0901","CMRPG3H0902"],"award-info":[{"award-number":["CMRPG3H0901","CMRPG3H0902"]}],"id":[{"id":"10.13039\/501100005795","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["NTUH108\u2010S4354","UN108\u2010023"],"award-info":[{"award-number":["NTUH108\u2010S4354","UN108\u2010023"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent genetic progress allows the molecular diagnosis of young\u2010onset dementia, including Alzheimer's disease (AD) and frontotemporal dementia (FTD). We aimed to identify the mutational and clinical spectra of causal genes in a Taiwanese cohort of young\u2010onset dementia. Ninety\u2010one patients with young\u2010onset dementia and 22 age\/gender\u2010matched controls were recruited. Genetic causes were identified by a targeted panel containing 90 causative genes for AD, FTD, and related neurodegenerative disorders. Plasma biomarkers, including total tau, A\u03b242, and A\u03b240, were assayed. Molecular amyloid and tau PET scans were performed in some patients carrying mutations. Nine of 52 patients (17.3%) with young\u2010onset AD had mutations: 2 (22.2%), 4 (44.5%), 2 (22.2%), and 1 (11.1%) in<jats:italic>APP<\/jats:italic>,<jats:italic>PSEN1<\/jats:italic>,<jats:italic>PSEN2<\/jats:italic>, and<jats:italic>TREM2<\/jats:italic>, respectively. Two of 33 patients (6.1%) with young\u2010onset FTD had mutations in<jats:italic>MAPT<\/jats:italic>and<jats:italic>LRRK2<\/jats:italic>. Three of the 6 patients (50.0%) with possible FTD combined with other neurodegenerative disorders had individual mutations in<jats:italic>APP<\/jats:italic>,<jats:italic>PSEN2<\/jats:italic>, or<jats:italic>MAPT<\/jats:italic>. Patients with<jats:italic>PSEN1<\/jats:italic>mutations had earlier onset of disease than those without mutations (<jats:italic>p<\/jats:italic>= .02). Plasma level of total tau was increased and A\u03b242 and A\u03b240 levels decreased in all groups of dementia patients compared to controls. Our findings provide a genetic spectrum of young\u2010onset dementia in our population.<\/jats:p>","DOI":"10.1002\/ajmg.b.32836","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T16:18:37Z","timestamp":1613319517000},"page":"67-76","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genetic study of<scp>young\u2010onset<\/scp>dementia using targeted gene panel sequencing in Taiwan"],"prefix":"10.1002","volume":"186","author":[{"given":"Jung\u2010Lung","family":"Hsu","sequence":"first","affiliation":[{"name":"Department of Neurology, New Taipei Municipal TuCheng Hospital Chang Gung Memorial Hospital and Chang Gung University New Taipei City Taiwan"},{"name":"Taipei Medical University, Graduate Institute of Humanities in Medicine and Research Center for Brain and Consciousness, Shuang Ho Hospital Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8566-7573","authenticated-orcid":false,"given":"Chin\u2010Hsien","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centre of Parkinson and Movement Disorders National Taiwan University Hospital, College of Medicine, National Taiwan University Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei\u2010Lung","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Taiwan University Hospital Taipei Taiwan"},{"name":"Graduate Institute of Medical Genomics and Proteomics National Taiwan University College of Medicine Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun\u2010Ju","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine and Center for Advanced Molecular Imaging and Translation, Chang Gung Memorial 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