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Ascertainment of Informative Alzheimer Disease Families from the IMAGE Project Registry for Genetic Linkage Analysis Studies

Published online by Cambridge University Press:  18 September 2015

D. Gautrin ,
J. Nalbantoglu ,
G. Lacoste-Royal ,
M. Grenon ,
S. Gauthier ,
R. Bouchard ,
J. Mathieu ,
Y. Robitaille ,
L.-P. Doyon  and
H. Bergman
...Show all authors
D. Gautrin
Affiliation:
INRS-Santé, Pointe-Claire, Quebec
J. Nalbantoglu*
Affiliation:
INRS-Santé, Pointe-Claire, Quebec
G. Lacoste-Royal
Affiliation:
INRS-Santé, Pointe-Claire, Quebec
M. Grenon
Affiliation:
INRS-Santé, Pointe-Claire, Quebec
S. Gauthier
Affiliation:
McGill Centre for Studies in Aging, Quebec
R. Bouchard
Affiliation:
Hopital de l'Enfant-Jésus, Quebec
J. Mathieu
Affiliation:
Hopital de Chicoutimi, Quebec
Y. Robitaille
Affiliation:
Montreal Neurological Institute, Quebec
L.-P. Doyon
Affiliation:
Hopital de Roberval, Quebec
H. Bergman
Affiliation:
Jewish General Hospital, Montreal, Quebec
A. Cholette
Affiliation:
Hopital de Chicoutimi, Quebec
M. de Braekeleer
Affiliation:
Université du Québec à Chicoutimi, Quebec
G. Bouchard
Affiliation:
Université du Québec à Chicoutimi, Quebec
D. Gauvreau
Affiliation:
INRS-Santé, Pointe-Claire, Quebec
*
INRS-Santé, 245 Hymus Blvd., Pointe Claire, PQ, Canada H9R 1G6
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Abstract:

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Genetic linkage analysis requires the identification and documentation of large families with many affected members present, preferably in more than one generation. The IMAGE Project has been establishing a population- based Alzheimer disease (AD) registry in the Saguenay - Lac-Saint-Jean region of the Province of Quebec. The population of this region has a well-documented ancestry, with reliable genealogical records (since 1842) computerized by SORER We have recently begun to investigate the pedigrees of selected probands (definite, probable and possible) from the IMAGE registry in order to identify informative pedigrees for genetic linkage analysis. Interviews were carried out with close relatives of the probands (at least one informant per sibship) to identify secondary AD cases. The questionnaires used pertain to the accuracy of genealogical records, to family medical history and to a retrospective diagnosis of AD for people with cognitive deficits. By these means, we have documented a large extended pedigree in which a total of 15 individuals with cognitive deficits were ascertained over three generations. Of these cases, 7 are still living and there is autopsy confirmation in another one. Computer simulations using the program SIMLINK revealed that this is a potentially informative family for linkage analysis. Horizontal extension of the pedigree to second cousins of the proband is now being carried out. This will render the family IMAGE/1 even more informative in genetic linkage analysis studies.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue S4 , November 1989 , pp. 468 - 472
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

References

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