A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features. (August 2014)

• Record Type: Journal Article
• Authors: Nygaard, Haakon B.; Lippa, Carol F.; Mehdi, Djekidel; Baehring, Joachim M.
• Is Part Of: American journal of Alzheimer's disease & other dementias. Volume 29:Number 5(2014)
• Page Start: 433
• Page End: 435
• Publication Date: 2014-08
• Subjects: PSEN1 -- novel mutation -- Alzheimer's disease -- frontal features; Alzheimer's disease -- Periodicals; Dementia -- Periodicals; Alzheimer's disease -- Patients -- Care -- United States -- Periodicals; 616.83
• DOI: 10.1177/1533317513518653
• Languages: English
• ISSNs: 1533-3175

Abstract

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 18 F 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.