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

Doğan, MustafaEröz, RecepTecellioğlu, MehmetGezdirici, AlperÇevik, BetülBarış, İbrahim2022-06-282022-06-282022https:/dx.doi.org/10.2174/1567205019666220414101251https://hdl.handle.net/20.500.12451/9501Early-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.eninfo:eu-repo/semantics/closedAccessAlzheimer's DiseaseEarly-onsetPSEN1DementiaFamilialNeurodegenerationPresenilin 1Spastic ParaparesisWhole-exome SequencingClinical 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 paraparesisArticle----10.2174/156720501966622041410125135430993Q2WOS:000836179200005Q4