APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal-dominant Alzheimer's disease.

ABSTRACT:

Background and purpose

The aim was to investigate the effect of APOE ε4 allele on cognitive decline in adAD. Presence of the APOE ε4 allele reduces age of symptom onset, increases disease progression, and lowers cognitive performance in sporadic Alzheimer's disease (AD), while the impact of the APOE ε4 allele in autosomal-dominant AD (adAD) is incompletely known.

Methods

Mutation carriers (MCs; n = 39) and non-carriers (NCs; n = 40) from six adAD families harbouring a mutation in the APP (28 MCs and 25 NCs) or the PSEN1 genes (11 MCs and 15 NCs) underwent repeated cognitive assessments. A timeline of disease course was defined as years to expected age of clinical onset (YECO) based on history of disease onset in each family. The MC and NC groups were comparable with regard t

SUBMITTER: Almkvist O 

PROVIDER: S-EPMC9826049 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature