H. Houlden et al., A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies, NEUROSCI L, 313(1-2), 2001, pp. 93-95
Presenilin 1 mutations are the major cause of autosomal dominant Alzheimer'
s disease: here we identify a new missense mutation causing a methionine to
valine change at codon 233. This codon is homologous to a pathogenic prese
nilin 2 mutation with the same base change (ATG to GTG) and amino acid chan
ge (M239V). This mutation causes disease with an exceptionally early onset
age (similar to 30 years) in which pathological examination shows extensive
Lewy bodies as well as plaques and tangles. (C) 2001 Elsevier Science Irel
and Ltd. All rights reserved.