Segregation analysis of Alzheimer pedigrees: Rare mendelian dominant mutation(s) explain a minority of early-onset cases
✍ Scribed by Martinez, M. ;Campion, D. ;Babron, M. C. ;Hannequin, D. ;Agid, Y. ;Bellis, M. ;Brice, A. ;Mallet, J. ;Michon, A. ;Thomas-Anterion, C. ;Clerget-Darpoux, F. ;,
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 369 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Segregation analysis of Alzheimer disease (AD) in 92 families ascertained through early-onset (Sage 60 years) AD (EOAD) probands has been carried out, allowing for a mixture in AD inheritance among probands. The goal was to quantify the proportion of probands that could be explained by autosomal inheritance of a rare disease allele "a" at a Mendelian dominant gene (MDG). Our data provide strong evidence for a mixture of two distributions; AD transmission is fully explained by MDG inheritance in ~2 0 % of probands. Male and female age-of-onset distributions are significantly different for "AA" but not for "aA" subjects.
For "aA" subjects the estimated penetrance value was close to 1 by age 60. For "AA" subjects, it reaches, by age 90, 10% (males) and 30% (females). We show a clear cutoff in the posterior probability of being an MDG case.