Article
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Neurobiology of disease - 1 Jun 2020
Hsu Simon, Pimenova Anna A, Hayes Kimberly, Villa Juan A, Rosene Matthew J, Jere Madhavi, Goate Alison M, Karch Celeste M
Abstract excerpt
Alzheimer's disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. More than 200 pathogenic mutations have been identified in amyloid-β precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2). Additionally, common and rare variants occur within APP, PSEN1, and PSEN2 that may be risk factors, protective factors, or benign, non-pathogenic...
Topics
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Humans
- Mutation
- Presenilin-1
- Presenilin-2