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

Content Provider	Europe PMC
Author	Nygaard, Haakon B. Lippa, Carol F. Mehdi, Djekidel Baehring, Joachim M.
Copyright Year	2014
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.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC10852869&blobtype=pdf
ISSN	15333175
Volume Number	29
DOI	10.1177/1533317513518653
PubMed Central reference number	PMC10852869
Issue Number	5
PubMed reference number	24463146
Journal	American Journal of Alzheimer's Disease and Other Dementias [Am J Alzheimers Dis Other Demen]
e-ISSN	19382731
Language	English
Publisher	SAGE Publications
Publisher Date	2014-01-24
Publisher Place	Sage CA: Los Angeles, CA
Access Restriction	Open
Rights License	© The Author(s) 2014
Subject Keyword	PSEN1 novel mutation Alzheimer’s disease frontal features
Content Type	Text
Resource Type	Article
Subject	Neuroscience Clinical Psychology Psychiatry and Mental Health Geriatrics and Gerontology