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ApoE2 allele, Down's syndrome, and dementia

Lookup NU author(s): Emeritus Professor Robert Perry


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All individuals with Down's syndrome (trisomy 21-DS) develop the pathogenic hallmarks of Alzheimer's disease in old age (+40 years).(1-4) The extent of pathology is variable, but it has been shown that the amount of beta-amyloid pathology is variable and related to age and the degree of dementia.(3) Thus, in DS, growing old is associated with a progressive pathological process which results in cognitive decline. However, neuropsychological studies of older DS subjects have identified a clinical dementia in only a proportion of cases.(4-7) These contradictory observations could be reconciled if some factor existed which modulated the rate and amount of beta-amyloid pathology. Recent studies demonstrate an association between the apolipoprotein E4 (ApoEA) allele and the earlier age of onset in both sporadic(8-9) and familial(10) AD. Increased amounts of beta-amyloid pathology can also be related to the E4 allele. However, at present there are no data documenting the effects of ApoE genotype on the expression or degree of clinical symptoms of the disease. We have examined the ApoE genotype in a cohort of clinically evaluated elderly patients with DS in order to examine the effects of ApoE genotype on the clinical symptoms of dementia. We report here that, despite the presence of an active disease process, the ApoE E2 allele is associated with longevity and preservation of cognitive functioning.

Publication metadata

Author(s): Royston MC, Mann D, Pickering-Brown S, Owen F, Perry R, Ragbavan R, Khin-Nu C, Tyner S, Day K, Crook R, Hardy J, Roberts GW

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: Neurobiology of Alzheimer's Disease

Year of Conference: 1996

Pages: 255-259

ISSN: 0077-8923

Publisher: Wiley-Blackwell Publishing, Inc.


DOI: 10.1111/j.1749-6632.1996.tb34428.x

Library holdings: Search Newcastle University Library for this item

Series Title: Annals of the New York Academy of Sciences

ISBN: 17496632