There have been two detailed neuropathological reports of families with a valine to isoleucine substitution at position 717 of the amyloid precursor protein gene. Surprisingly, in one of these families substantial Lewy body formation occurred in addition to Alzheimer's disease, prompting the speculation that such a genetic mutation may predispose to both Lewy body and plaque formation. This report describes the neuropathology of an additional family with the same genetic mutation. Of two affected members who have come to autopsy, one had brainstem Lewy bodies. Some of these Lewy bodies had peripheral halos immunoreactive for beta-amyloid. These findings suggest a greater than chance link between genetic mutations for Alzheimer's disease and Lewy body formation.
Alzheimer Disease Amyloid beta-Protein Precursor