Article
Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor protein gene.
Neuroscience letters - 30 Mar 1992
Mann D M, Jones D, Snowden J S, Neary D, Hardy J
Abstract excerpt
The brain of a 61-year-old patient with familial Alzheimer's disease, showing a missense (valine----glycine) mutation at codon 717 of the amyloid precursor gene, has been examined at postmortem. Sections of brain showed pathological features entirely typical of Alzheimer's disease with no unusual characteristics. It seems therefore that this particular mutation is indeed pathogenic and that the altered amyloid...
Topics
- Adult
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Brain
- Codon
- Female
- Humans
- Mutation
- Neural Pathways