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Article

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

American journal of Alzheimer's disease and other dementias - 1 Aug 2014

Nygaard Haakon B, Lippa Carol F, Mehdi Djekidel, Baehring Joachim M

Abstract excerpt

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...

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Identifiers

PMID: 24463146
DOI: 10.1177/1533317513518653
PMCID: PMC10852869

Genes

PSEN1

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