{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:01:51Z","timestamp":1790694111414,"version":"4.1.0"},"reference-count":98,"publisher":"Bentham Science Publishers Ltd.","issue":"3","content-domain":{"domain":["eurekaselect.com"],"crossmark-restriction":true},"short-container-title":["CAR"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:sec>\n<jats:title>Background:<\/jats:title>\n<jats:p>Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset\nage of earlier than 65 years and accounts for 5\u201310% of all Alzheimer's disease (AD) cases. To date,\nalthough only 10-15% of familial EOAD cases have been explained, the genetic cause of the vast proportion\nof cases has not been explained. The variant Alzheimer's disease with spastic paraparesis (var-\nAD) is defined as a rare clinical entity characterized by early-onset dementia, spasticity of the lower extremities,\nand gait disturbance. Although the disease was first associated with variants in exon 9 of the\nPSEN1 gene, it was later shown that variations in other exons were also responsible for the disease.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Objective:<\/jats:title>\n<jats:p>The current study aims to raise awareness of varAD, which occurs as a rare phenotype due to\npathogenic variants in PSEN1. In addition, we aimed to evaluate the spectrum of mutations in varAD\npatients identified to date.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Methods:<\/jats:title>\n<jats:p>Detailed family histories and clinical data were recorded. Whole exome sequencing was performed\nand co-segregation analysis of the family was done by Sanger sequencing. Also, a review of the\nmolecularly confirmed patients with (varAD) from the literature was evaluated.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results:<\/jats:title>\n<jats:p>We identified a heterozygous splicing variant (c.869-1G&gt;A) in the PSEN1 gene, in a family\nwith two affected individuals who present with varAD. We reported the clinical and genetic findings\nfrom the affected individuals.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion:<\/jats:title>\n<jats:p>We present the detailed clinical and genetic profiles of a Turkish patient with the diagnosis\nof varAD together with subjects from the literature. Together, we think that the clinical characteristics\nand the effect of the (c.869-1G&gt;A) variant will facilitate our understanding of the PSEN1 gene in AD\npathogenesis.<\/jats:p>\n<\/jats:sec>","DOI":"10.2174\/1567205019666220414101251","type":"journal-article","created":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T08:09:31Z","timestamp":1650269371000},"page":"223-235","update-policy":"https:\/\/doi.org\/10.2174\/bsp_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-\n1G&gt;A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant\nAlzheimer's Disease with Spastic Paraparesis"],"prefix":"10.2174","volume":"19","author":[{"given":"Mustafa","family":"Do\u011fan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Malatya Turgut Ozal University Medical Faculty, Malatya, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Recep","family":"Er\u00f6z","sequence":"additional","affiliation":[{"name":"Department of\nMedical Genetics, Aksaray University Medical Faculty, Aksaray, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Tecellio\u011flu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Inonu University\nMedical Faculty, Malatya, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul,\nTurkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bet\u00fcl","family":"\u00c7evik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tokat Gaziosmanpasa University Medical Faculty, Tokat, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130brahim","family":"Bar\u0131\u015f","sequence":"additional","affiliation":[{"name":"Department\nof Molecular Biology and Genetics, Koc University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"965","reference":[{"key":"ref=1","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.jalz.2016.08.007","volume":"13","author":"Leyhe T.","year":"2017","unstructured":"Leyhe T.; Reynolds C.F.; Melcher T.; A common challenge in older adults: Classification, overlap, and therapy of depression and dementia. 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