Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.

摘要: Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting growing interest in the scientific community. Improved phenotyping of FAD cases may have relevant impact both clinical and research contexts. We performed systematic review studies describing phenotypic features sustained by PSEN2 mutations, less common cause monogenic AD. Special attention was given to manifestations as well main findings coming from most commonly widely adopted diagnostic procedures. Basing on collected data, we also attempted conduct genotype-phenotype correlation analysis. Overall, mutations involving gene represent an extremely FAD, having been reported date than 200 cases. They are mainly associated, some peculiar heterogeneous features, typical AD phenotype. Nevertheless, frequent occurrence psychotic symptoms potential distinctive element. The scarcity available descriptions strongly limits implementation correlations.