Article
Early-onset familial Alzheimer's disease (EOFAD).
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Jul 2012
Wu Liyong, Rosa-Neto Pedro, Hsiung Ging-Yuek R, Sadovnick A Dessa, Masellis Mario, Black Sandra E, Jia Jianping, Gauthier Serge
Abstract excerpt
Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis,...
Topics
- Age of Onset
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Diagnosis, Differential
- Genetic Counseling
- Humans
- Membrane Proteins
- Models, Biological
- Mutation
- Presenilin-1
- Presenilin-2