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No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies

Lookup NU author(s): Dr Heather Lamb, Alan Leake, Professor Ian McKeith, Emeritus Professor Robert Perry, Dr Christopher Morris


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

Publication metadata

Author(s): McKeith IG; Perry RH; Leake A; Morris CM; Lamb H; Singleton AB; Ince PG

Publication type: Article

Publication status: Published

Journal: NeuroReport

Year: 1997

Volume: 8

Issue: 16

Pages: 3637-3639

Print publication date: 01/11/1997

ISSN (print): 0959-4965

ISSN (electronic): 1473-558X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/00001756-199711100-00042


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