Article
Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.
Neurobiology of aging - 1 Apr 2016
Piccoli Elena, Rossi Giacomina, Rossi Tommaso, Pelliccioni Giuseppe, D'Amato Ilaria, Tagliavini Fabrizio, Di Fede Giuseppe
Abstract excerpt
Autosomal dominant Alzheimer's disease (AD) is caused by mutations in amyloid precursor protein, presenilin 1 (PSEN1), and presenilin 2 genes and is mostly associated with early-onset form of AD (EOAD), whereas very few mutations were also found in late-onset AD (LOAD) cases. Because of the clinical overlapping between AD and other degenerative dementias such as frontotemporal dementias, a wide-spectrum genetic...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Exome
- Female
- Genetic Association Studies
- Humans
- Male
- Middle Aged
- Mutation