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Cruchaga C, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM, NIA-LOAD/NCRAD Family Study Consortium.
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 Abstract
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Comments on Paper and Primary News |
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Comment by: Bart De Strooper, ARF Advisor
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Submitted 12 February 2012
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Posted 13 February 2012
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 I recommend this paper
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Primary News: Late- and Early-Onset AD—Not So Distant at Genetic Level
Comment by: Jean-François Foncin
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Submitted 20 February 2012
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Posted 22 February 2012
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I recommend this paper
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.
References:
Bruni AC, Montesi MP, Salmon D, Gei G, Perre J, el Hachimi KH, Foncin JF. Alzheimer's disease: a model from the quantitative study of a large kindred. J Geriatr Psychiatry Neurol. 1992 Jul-Sep;5(3):126-31. Abstract
 View all comments by Jean-François Foncin |
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