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Journal 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, v 29(5), pp 433-435
Aug 2014
PMID: 24463146
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
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Details
- Title
- A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features
- Creators
- Haakon B Nygaard - Yale UniversityCarol F Lippa - Drexel UniversityDjekidel Mehdi - Yale UniversityJoachim M Baehring - Yale University
- Publication Details
- American journal of Alzheimer's disease and other dementias, v 29(5), pp 433-435
- Publisher
- Sage
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000340201100006
- Scopus ID
- 2-s2.0-84904414527
- Other Identifier
- 991019312467104721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Geriatrics & Gerontology