Article
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
Neurobiology of aging - 1 Jan 2016
Blauwendraat Cornelis, Wilke Carlo, Jansen Iris E, Schulte Claudia, Simón-Sánchez Javier, Metzger Florian G, Bender Benjamin, Gasser Thomas, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matthis
Abstract excerpt
Early-onset Alzheimer's disease (EOAD) accounts for 1%-2% of all Alzheimer's disease (AD) subjects, with large variation in the reported genetic contribution of known dementia genes. In this pilot study, we genetically characterized a German EOAD cohort (23 subjects) by whole-exome sequencing, capturing variants in all recognized AD and frontotemporal dementia genes. After variant filtering, we identified 7...
Topics
- Aged
- Alzheimer Disease
- Cohort Studies
- Exome
- Female
- Frontotemporal Dementia
- Genetic Association Studies
- Genetic Variation
- Germany
- Humans
- Male
- Middle Aged
- Mutation