{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:29:22Z","timestamp":1759336162603,"version":"3.41.2"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T00:00:00Z","timestamp":1544745600000},"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":["Brain and Behavior"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Alzheimer's disease (AD) is the most common form of dementia characterized by memory loss at disease onset. The gene mutations in the amyloid precursor protein (<jats:italic>APP<\/jats:italic>), presenilin 1 (<jats:italic>PSEN1<\/jats:italic>), and presenilin 2 (<jats:italic>PSEN2<\/jats:italic>) are the frequent causes of AD. However, the clinical and genetic features of AD overlap with other neurodegenerative diseases. The present study aimed to identify the clinical and genetic characteristics in a Han Chinese AD cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Detailed clinical assessment was applied to all the patients. We screened amyloid precursor protein (<jats:italic>APP<\/jats:italic>), <jats:italic>PSEN1<\/jats:italic>, <jats:italic>PSEN2<\/jats:italic>, and microtubule\u2010associated protein tau (<jats:italic>MAPT<\/jats:italic>) genes were assessed in 83 sporadic AD patients by Sanger sequencing. A total of 25 probands from families with AD were subjected to next\u2010generation sequencing on 53 dementia\u2010associated genes to capture the target region, and Sanger sequencing was used to detect the variants in the DNA sequence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>PSEN1<\/jats:italic> p.L226R was found in an early\u2010onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal\u2010temporal dementia gene, TANK\u2010binding kinase 1 (<jats:italic>TBK1<\/jats:italic>) with a typical AD phenotype in a late\u2010onset AD (LOAD) family, and a <jats:italic>PSEN2<\/jats:italic>p.H169N mutation and two benign <jats:italic>MAPT<\/jats:italic> (p.Q230R and p.V48L) mutations were detected in three EOAD patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Thus, five variants were identified in a Han Chinese cohort. In the present study, a novel, probably damaging FTLD gene <jats:italic>TBK1<\/jats:italic>variant with a typical AD phenotype was detected. Also, the phenotypic characteristics of<jats:italic> PSEN1<\/jats:italic> p.L226R, a <jats:italic>PSEN2<\/jats:italic>pathogenic mutation, and two likely benign <jats:italic>MAPT<\/jats:italic> variants were described. Hence, screening for mutations in other dementia genes could be further explored in clinically diagnosed AD patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1180","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T10:59:37Z","timestamp":1544785177000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Gene mutations in a Han Chinese Alzheimer's disease cohort"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4227-3245","authenticated-orcid":false,"given":"Limin","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Neurology People's Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiewen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Henan Provincial People's Hospital Zhengzhou 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