A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease.

We report the case of a 40 year-old woman who, at 38 years of age, developed insidious memory loss and, subsequently, progressive dementia satisfying criteria for probable Alzheimer's disease (AD) (NINCDS-ADRDA) [Neurology 1984; 34: 939]. Analysis of the presenilin 1 gene (PSEN1) revealed a 496_498delCTT mutation at codon 166. The amnestic presentation and absence of other features contrasts with the majority of other documented deletions which have been associated with spastic paraparesis. They are, however, consistent with the reported clinical phenotype in the majority of PSEN1 exon 6 mutations so far reported.