Journal
NEUROSCIENCE LETTERS
Volume 313, Issue 1-2, Pages 93-95Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/S0304-3940(01)02254-6
Keywords
Alzheimer's disease; genetics; presenilins; Lewy bodies
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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 presenilin 2 mutation with the same base change (ATG to GTG) and amino acid change (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 Ireland Ltd. All rights reserved.
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