FURTHER EVIDENCE FOR AN ASSOCIATION BETWEEN A MUTATION IN THE APP GENE AND LEWY BODY FORMATION

There have been two detailed neuropathological reports of families wit h a valine to isoleucine substitution at position 717 of the amyloid p recursor protein gene. Surprisingly, in one of these families substant ial Lewy body formation occurred in addition to Alzheimer's disease, p rompting the speculation that such a genetic mutation may predispose t o both Lewy body and plaque formation. This report describes the neuro pathology of an additional family with the same genetic mutation. Of t wo affected members who have come to autopsy, one had brainstem Lewy b odies. Some of these Lewy bodies had peripheral halos immunoreactive f or beta-amyloid. These findings suggest a greater than chance link bet ween genetic mutations for Alzheimer's disease and Lewy body formation . (C) 1997 Elsevier Science Ireland Ltd.