Early-onset Alzheimer's disease caused by a novel mutation at codon 219 ofthe presenilin-1 gene

MUTATIONS in the presenilin 1 (PS1) gene are responsible for similar to 50% of early onset autosomal-dominant Alzheimer's disease cases. A PCR based m utation detection method, chemical cleavage of mismatch, was used to detect a novel PS1 mutation in the coding sequence of the PS1 gene. Sequencing co nfirmed a T to C transition altering a leucine to proline at codon 219 of t he PS1 gene. This is a novel mutation in exon 7 of the PSZ gene occurring o utside the transmembrane regions of IV and V. (C) 1999 Lippincott Williams & Wilkins.