Pii: S0304-3940(01)02254-6
نویسندگان
چکیده
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 (~30 years) in which pathological examination shows extensive Lewy bodies as well as plaques and tangles. q 2001 Elsevier Science Ireland Ltd. All rights reserved.
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تاریخ انتشار 2001