Article
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
Neurobiology of aging - 1 Oct 2015
Muchnik Carolina, Olivar Natividad, Dalmasso María Carolina, Azurmendi Pablo Javier, Liberczuk Cynthia, Morelli Laura, Brusco Luis Ignacio
Abstract excerpt
Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. We aimed to investigate the presence of PSEN2 mutation p.N141I and characterize the clinical phenotypes in 2 Argentine pedigrees (AR2 and AR3) with clinical symptoms of EOFAD. Detailed clinical assessments and genetic screening for PSEN2 and APOE...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Apolipoproteins E
- Female
- Genetic Association Studies
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Presenilin-2