SEQUENCE-ANALYSIS OF PRESENILIN-1 GENE MUTATION IN JAPANESE ALZHEIMERS-DISEASE PATIENTS

The mutations of presenilins (PSs) gene and their clinicopathological correlations to Alzheimer's disease (AD) have lately attracted conside rable attention. In this report we analyzed fifteen Japanese familial Alzheimer's disease (FAD) including 12 early-onset FAD and 13 sporadic AD patients for the mutation of PS-1 gene by direct sequence analysis . We found the mutations, G384A, E280A in two FAD and H163R in one spo radic AD patient, and no N141I or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. F amilies in which we failed ro find the mutation by this screening may have mutations elsewhere in PSs or in APP gene, or yet unidentified ot her AD loci may exist. This is the first report to find a sporadic AD patient having PS-1 mutation.