A NOVEL LEU171PRO MUTATION IN PRESENILIN-1 GENE IN A MEXICAN FAMILY WITH EARLY-ONSET ALZHEIMER-DISEASE

A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yie lded the discovery in one family of a T-->C mismatch in exon 7 which c orrespond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etio pathogenic relationship of the mutation with the disorder.