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Alzheimer's Disease: A Model From the Quantitative Study of a Large Kindred

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

Maria Paola Montesi, PhD

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

Denise Salmon, MD, PhD

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

Giorgio Gei, PhD

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

Janine Perre, PhD

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

K. Hamid El Hachimi, MS

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

Jean-François Foncin, MD

SMID-SUD Group (Drs Bruni, Montesi, and Gei) and the USSL 17 (Drs Bruni and Montesi), Lamezia Terme, Italy; the Collège de France and the INTS (Dr Salmon), and the Ecole Pratique des Hautes Etudes and the INSERM U106 (Drs Perre and Foncin and Mr El Hachimi), Paris, France.

In an Italian kindred (family N), early onset Alzheimer's disease has been transmitted in a Mendelian autosomal fashion since the early 18th century. The age at death of affected members of the family varies widely, and was taken as an index of the age of expression, a measure of phenotypic variability. Either a gamma or a log-normal algorithm provides the best fit for the age at death distribution. Subsets of family N widely different as to time and place have the same age at death of patients: Environment appears to play a negligible role in the expression of disease. Pairwise correlation between an affected parent and child is zero: The disease is monogenic (no major expression gene). The same stochastic distribution of age of expression, but with late onset, and after correction for death from other causes, is compatible with the epidemiology of Alzheimer's disease in general. Mendelian genetics is a possible model for Alzheimer's disease etiology. (J Geriatr Psychiatry Neurol 1992;5:126–131).

Journal of Geriatric Psychiatry and Neurology, Vol. 5, No. 3, 126-131 (1992)
DOI: 10.1177/002383099200500301


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