Publication:
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

dc.contributor.coauthorDogan, Mustafa
dc.contributor.coauthorEroz, Recep
dc.contributor.coauthorTecellioglu, Mehmet
dc.contributor.coauthorGezdirici, Alper
dc.contributor.coauthorCevik, Betul
dc.contributor.departmentDepartment of Molecular Biology and Genetics
dc.contributor.kuauthorBarış, İbrahim
dc.contributor.kuprofileTeaching Faculty
dc.contributor.yokid111629
dc.date.accessioned2024-11-09T23:49:08Z
dc.date.issued2022
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.
dc.description.indexedbyWoS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue3
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume19
dc.identifier.doi10.2174/1567205019666220414101251
dc.identifier.eissn1875-5828
dc.identifier.issn1567-2050
dc.identifier.quartileQ4
dc.identifier.scopus2-s2.0-85132857582
dc.identifier.urihttp://dx.doi.org/10.2174/1567205019666220414101251
dc.identifier.urihttps://hdl.handle.net/20.500.14288/14319
dc.identifier.wos836179200005
dc.keywordsAlzheimer's disease
dc.keywordsEarly-onset
dc.keywordsfamilial
dc.keywordsPresenilin 1
dc.keywordsPSEN1
dc.keywordsWhole exome sequencing
dc.keywordsDementia
dc.keywordsNeurodegeneration
dc.keywordsSpastic paraparesis cotton wool plaques
dc.keywordsPresenilin-1 mutation
dc.keywordsAmyloid hypothesis
dc.keywordsBeta peptide
dc.keywordsOnset
dc.keywordsDeletion
dc.keywordsDementia
dc.keywordsPatient
dc.keywordsEXON-9
dc.keywordsAssociation
dc.languageEnglish
dc.publisherBentham Science
dc.sourceCurrent Alzheimer Research
dc.subjectClinical neurology
dc.subjectNeurosciences
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 paraparesis
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.authorid0000-0003-2185-3259
local.contributor.kuauthorBarış, İbrahim
local.publication.orgunit1College of Sciences
local.publication.orgunit2Department of Molecular Biology and Genetics
relation.isOrgUnitOfPublicationaee2d329-aabe-4b58-ba67-09dbf8575547
relation.isOrgUnitOfPublication.latestForDiscoveryaee2d329-aabe-4b58-ba67-09dbf8575547

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