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.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.accessioned2022-06-28T08:14:34Z
dc.date.available2022-06-28T08:14:34Z
dc.date.issued2022
dc.departmentTıp Fakültesi
dc.description.abstractEarly-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.
dc.identifier.doi10.2174/1567205019666220414101251
dc.identifier.endpage-en_US
dc.identifier.issue-en_US
dc.identifier.pmid35430993
dc.identifier.scopusqualityQ2
dc.identifier.startpage-en_US
dc.identifier.urihttps:/dx.doi.org/10.2174/1567205019666220414101251
dc.identifier.urihttps://hdl.handle.net/20.500.12451/9501
dc.identifier.volume-en_US
dc.identifier.wosWOS:000836179200005
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherBentham Science Publishers Ltd.
dc.relation.ispartofCurrent Alzheimer Research
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAlzheimer's Disease
dc.subjectEarly-onset
dc.subjectPSEN1
dc.subjectDementia
dc.subjectFamilial
dc.subjectNeurodegeneration
dc.subjectPresenilin 1
dc.subjectSpastic Paraparesis
dc.subjectWhole-exome Sequencing
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.typeArticle

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