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

C. M. Van Duijn, C. Van Broeckhoven, J. A. Hardy, A. M. Goate, M. N. Rossor, A. Vandenberghe, J. J. Martin, A. Hofman, M. J. Mullan

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


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 consistency 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.

Original languageEnglish
Pages (from-to)471-474
Number of pages4
JournalBritish Journal of Psychiatry
Issue numberAPR.
StatePublished - 1991
Externally publishedYes


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