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Am J Alzheimers Dis Other Demen. 2014 Aug;29(5):433-5. doi: 10.1177/1533317513518653. Epub 2014 Jan 24.

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

Author information

1
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA haakon.nygaard@yale.edu.
2
Department of Neurology, Drexel University, Philadelphia, PA, USA.
3
Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, CT, USA.
4
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.

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.

KEYWORDS:

Alzheimer’s disease; PSEN1; frontal features; novel mutation

PMID:
24463146
DOI:
10.1177/1533317513518653
[Indexed for MEDLINE]

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