Article
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
International journal of geriatric psychiatry - 1 Jul 2002
Goldman Jill S, Reed Bruce, Gearhart Rosalie, Kramer Joel H, Miller Bruce L
Abstract excerpt
BACKGROUND: Early-onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable. OBJECTIVES: The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD. METHODS: This is a case history using information from medical records, relative...
Topics
- Adult
- Age of Onset
- Alzheimer Disease
- Genetic Predisposition to Disease
- Humans
- Male
- Membrane Proteins
- Mutation
- Pedigree
- Presenilin-1