Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis

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dc.authorid0000-0003-0464-6565en_US
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorEröz, Recep
dc.contributor.authorTecellioğlu, Mehmet
dc.contributor.authorGezdirici, Alper
dc.contributor.authorÇevik, Betül
dc.contributor.authorBarış, İbrahim
dc.date.accessioned2022-07-21T08:22:17Z
dc.date.available2022-07-21T08:22:17Z
dc.date.issued2022en_US
dc.departmentMTÖ Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionCopyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.en_US
dc.description.abstractBackground: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5–10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial EOAD cases have been explained, the genetic cause of the vast proportion of cases has not been explained. The variant Alzheimer's disease with spastic paraparesis (var- AD) is defined as a rare clinical entity characterized by early-onset dementia, spasticity of the lower extremities, and gait disturbance. Although the disease was first associated with variants in exon 9 of the PSEN1 gene, it was later shown that variations in other exons were also responsible for the disease. Objective: The current study aims to raise awareness of varAD, which occurs as a rare phenotype due to pathogenic variants in PSEN1. In addition, we aimed to evaluate the spectrum of mutations in varAD patients identified to date. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by Sanger sequencing. Also, a review of the molecularly confirmed patients with (varAD) from the literature was evaluated. Results: We identified a heterozygous splicing variant (c.869-1G>A) in the PSEN1 gene, in a family with two affected individuals who present with varAD. We reported the clinical and genetic findings from the affected individuals. Conclusion: We present the detailed clinical and genetic profiles of a Turkish patient with the diagnosis of varAD together with subjects from the literature. Together, we think that the clinical characteristics and the effect of the (c.869-1G>A) variant will facilitate our understanding of the PSEN1 gene in AD pathogenesis.en_US
dc.identifier.citationDoğan, M., Eröz, R., Tecellioğlu, M., Gezdirici, A., Çevik, B., & Barış, İ. (2022). Clinical and Molecular Findings in a Turkish Family Who Had a (c. 869-1G> A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis. Current Alzheimer Research. 19 (39, 223-235.en_US
dc.identifier.doi10.2174/1567205019666220414101251
dc.identifier.endpage235en_US
dc.identifier.issue3en_US
dc.identifier.pmid35430993
dc.identifier.scopus2-s2.0-85132857582en_US
dc.identifier.startpage223en_US
dc.identifier.urihttps://doi.org/10.2174/1567205019666220414101251
dc.identifier.urihttps://hdl.handle.net/20.500.12899/1165
dc.identifier.volume19en_US
dc.identifier.wosWOS:000836179200005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDoğan, Mustafa
dc.language.isoenen_US
dc.publisherBentham Scienceen_US
dc.relation.ispartofCurrent Alzheimer Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAlzheimer's diseaseen_US
dc.subjectEarly-onseten_US
dc.subjectFamilialen_US
dc.subjectPresenilin 1en_US
dc.subjectPSEN1en_US
dc.subjectWhole exome sequencingen_US
dc.subjectDementiaen_US
dc.subjectNeurodegenerationen_US
dc.subjectSpastic paraparesisen_US
dc.titleClinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesisen_US
dc.typeArticleen_US

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