A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease

Alzheimer’s disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited mutations in “ Presenilin 1 ” ( PSEN1 ), “ Presenilin 2 ” ( PSEN2 ), and “ Amyloid precursor protein ” ( APP ) genes were associated with fa...

Ausführliche Beschreibung