A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features

Familial Alzheimer’s disease (AD) is a rare disorder involving known autosomal dominant mutations in the amyloid precursor protein and presenilin (PSEN) 1 and 2. Here, we present a case of early-onset AD with prominent frontal features associated with a novel deletion of codon 40 in the PSEN1 gene. Serial brain magnetic resonance imaging and 18F florbetapir imaging show prominent involvement of the frontal lobes, corresponding with the clinical presentation. This case report illustrates a possible link between a novel PSEN1 mutation and frontal variant AD.

Source: American Journal of Alzheimer's Disease and Other Dementias - July 15, 2014 Category: Geriatrics Authors: Nygaard, H. B., Lippa, C. F., Mehdi, D., Baehring, J. M. Tags: Current Topics in Research Source Type: research