NO ASSOCIATION BETWEEN A POLYMORPHISM IN THE PRESENILIN-1 GENE AND DEMENTIA WITH LEWY BODIES

THE discovery of mis-sense mutations linking the presenilin-1 (PS-l) g ene on chromosome 14 to Alzheimer's disease (AD) has lead to a thoroug h investigation of this locus. The PS-1 gene contains a polymorphism c reating two alleles. The most common allele, allele 1, has been linked with late-onset AD. Given the clinical and pathological overlaps betw een AD and dementia with Lewy bodies we genotyped 46 pathologically co nfirmed cases of dementia with Lewy bodies for the PS-1 polymorphism a nd compared the allelic frequencies with 87 age-matched control cases and 103 age-matched AD cases. No association between dementia with Lew y bodies and PS-l allele 1 was found either in the group as a whole, o r in the group stratified according to dosage of the epsilon 4 allele of the apolipoprotein E gene. We suggest that either the presenilin po lymorphism has no effect dementia with Lewy bodies or that any linkage precluded by another, more influential, locus.