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

Basit Öğe Kaydı
dc.authoriddogan, mustafa/0000-0003-0464-6565
dc.authorwosiddogan, mustafa/GQQ-1241-2022
dc.authorwosidGezdirici, Alper/W-8459-2018
dc.authorwosidEroz, Recep/HFZ-9751-2022
dc.contributor.authorDogan, Mustafa
dc.contributor.authorEroz, Recep
dc.contributor.authorTecellioglu, Mehmet
dc.contributor.authorGezdirici, Alper
dc.contributor.authorCevik, Betul
dc.contributor.authorBaris, Ibrahim
dc.date.accessioned2024-08-04T20:52:05Z
dc.date.available2024-08-04T20:52:05Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_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 (varAD) 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.doi10.2174/1567205019666220414101251
dc.identifier.endpage235en_US
dc.identifier.issn1567-2050
dc.identifier.issn1875-5828
dc.identifier.issue3en_US
dc.identifier.pmid35430993en_US
dc.identifier.scopus2-s2.0-85132857582en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage223en_US
dc.identifier.urihttps://doi.org/10.2174/1567205019666220414101251
dc.identifier.urihttps://hdl.handle.net/11616/100747
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.language.isoenen_US
dc.publisherBentham Science Publ Ltden_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

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu