Publications in The New England Journal of Medicine

Variants in APOE and PSEN1 (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer’s disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer’s disease caused by the PSEN1^E280A variant who also had two copies of the apolipoprotein E3 Christchurch variant (APOE3^Ch). Heterozygosity for the APOE3^Ch variant may influence the age at which the onset of cognitive impairment occurs. We assessed this hypothesis in a population in which the PSEN1^E280A variant is prevalent.