G. Halliday et al., FURTHER EVIDENCE FOR AN ASSOCIATION BETWEEN A MUTATION IN THE APP GENE AND LEWY BODY FORMATION, Neuroscience letters, 227(1), 1997, pp. 49-52
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.