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- Title
A Novel Presenilin 1 Mutation in Early-Onset Alzheimer’s Disease With Prominent Frontal Features.
- Authors
Nygaard, Haakon B.; Lippa, Carol F.; Mehdi, Djekidel; Baehring, Joachim M.
- 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 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.
- Subjects
GENETICS of Alzheimer's disease; POSITRON emission tomography; GENETIC mutation; PSYCHOLOGICAL tests
- Publication
American Journal of Alzheimer's Disease & Other Dementias, 2014, Vol 29, Issue 5, p433
- ISSN
1533-3175
- Publication type
Article
- DOI
10.1177/1533317513518653