. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One. 2012;7(2):e31039. PubMed.

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  1. Told you so (see reference).

    I missed from the discussion a mention of the stochastic nature of gene expression, and specifically of the age at onset, as an explanation of the incomplete "penetrance" of mutations with a late expression. Penetrance is a dirty word that explains nothing, as many carriers die from other causes before expression of the mutation.

    View all comments by Jean-François Foncin