Identification of PSEN1 and PSEN2 Gene Variants and Clinical Findings with the Literature

In this study we analyzed 81 patients who referred to our outpatient clinic diagnosed as early onset Alzheimer's disease (EOAD) between January 2014-January 2017 and had been performed Sanger sequencing analysis for exons 16 and 17 of APP, and all coding exons of PSEN1 and PSEN2 genes. All sequenced patients were demented, and of the 81 patients, 49 were female and 32 were male. The average age at admission and mean age of onset were 54.8 (Patients were referred to our outpatient clinic at the time of diagnosis). Before testing, written informed consent was obtained from the patients and/or family members, and ethics committee approval was received for this study from the Ethics Committee of Dokuz Eylul University Medicine Faculty. We found seven PSEN1and four PSEN2 mutations, and we did not find any APP mutations.