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The British Journal of Psychiatry 158: 471-474 (1991)
© 1991 The Royal College of Psychiatrists

Evidence for allelic heterogeneity in familial early-onset Alzheimer's disease

CM van Duijn, C van Broeckhoven, JA Hardy, AM Goate, MN Rossor, A Vandenberghe, JJ Martin, A Hofman and MJ Mullan
Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands.

Age of onset was examined for 139 members of 30 families affected by early-onset AD. Most (77%) of the variance of age of onset derived from differences between rather than within families. The constancy of age of onset within families was also observed in an analysis restricted to families derived from a population-based epidemiological study with complete ascertainment of early-onset AD. Furthermore, we observed clustering of age of onset within those families that support linkage to the predisposing locus on chromosome 21. Our data are compatible with the view that allelic heterogeneity at the AD locus may account for the similarity in age of onset within families. This finding may be of value for scientific studies of AD as well as for genetic counselling.


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K. Axelman, H. Basun, and L. Lannfelt
Wide Range of Disease Onset in a Family With Alzheimer Disease and a His163Tyr Mutation in the Presenilin-1 Gene
Arch Neurol, May 1, 1998; 55(5): 698 - 702.
[Abstract] [Full Text] [PDF]


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Copyright © 1991 The Royal College of Psychiatrists.