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Extended Kindreds as a Model for Research on Alzheimer’s Disease

  • J.-F. Foncin
  • D. Salmon
  • A. C. Bruni
Part of the Research and Perspectives in Alzheimer’s Disease book series (ALZHEIMER)

Summary

This chapter reviews the methods used to gather, organize and analyse the data, and explains how we used the information provided by large kindreds in which Alzheimer’s disease occurs with very high incidence, drawing primarily from our experience with a southern Italian extended family (family “N”). About 4000 subjects, 60 of whom were affected with Alzheimer’s disease, are identified in this pedigree, with the common ancestor of all affected subjects being identified as a woman born in 1715. Exploration of municipal and parish records on a blanket basis was fundamental to establish the pedigree, mental (state) hospital records were used to establish diagnosis, and Bayesian probabilities permitted an estimate of status for subjects for whom age at death was known and genotype probability was known or estimated. Segregation ratio and thence mode of transmission may be established within narrow confidence limits from large bias-free pedigrees; these are the only ones for which Mendelian dominant autosomal transmission, to the exclusion of environmental effects, has been established. Large pedigrees have been decisive in recent progress in the molecular genetics of Alzheimer’s disease. The nosological relationship between the disease expressed in those kindreds and that appearing sporadically or in small clusters is a matter under discussion. What seems certain is that large kindreds are one of the most powerful models at our disposal for research on Alzheimer’s disease.

Keywords

Segregation Ratio Bayesian Probability Large Pedigree Large Kindred Gerstmann Straussler Scheinker Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1988

Authors and Affiliations

  • J.-F. Foncin
  • D. Salmon
  • A. C. Bruni

There are no affiliations available

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