Understanding reduced penetrance of ABCA7 premature termination codon mutations in Alzheimer's disease. University of Antwerp
Evidence accumulates that predicted loss-of-function mutations in the Alzheimer risk gene ABCA7 are 4 — 5 times more frequent among Alzheimer's disease (AD) patients than cognitively healthy individuals. Two striking characteristics of ABCA7 mutation carriers are -on the one hand- an increased proportion of familial disease, and -on the other hand- wide spread in onset age and incomplete penetrance. Thus, while these mutations might be ...