Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early‐onset Alzheimer's disease in the third decade of life

Abstract

The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms. Excessive amyloid beta 42 production in the brain cortex corresponds well with other PSEN1 mutations.