. Rare autosomal copy number variations in early-onset familial Alzheimer's disease. Mol Psychiatry. 2014 Jun;19(6):676-81. Epub 2013 Jun 11 PubMed.

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  1. Dr. Hardy's comment that "CNVs may play less of a role in AD than they do in autism or schizophrenia" is based on recently published data from a study, which reported no overrepresentation of specific copy number variations (CNVs) in sporadic AD (Chapman et al., 2013). In contrast, our recently published study (Hooli et al., 2013), was not aimed at searching for overrepresented CNVs in sporadic AD. Instead, we specifically searched for, and successfully identified, rare CNVs segregating with AD in early onset familial AD (EO-FAD) kindreds (Hooli et al., 2013). Thus, these are very different studies with little or no relevance to each other. We look forward to future studies addressing replication of the novel and rare CNVs that we report in EO-FAD families and also to the discovery of other novel EO-FAD CNVs. Studies of the genes implicated in these CNVs hopefully will provide new insights into the etiology and pathogenesis of AD while also providing new clues for therapies aimed at the prevention and treatment of AD.

    References:

    . A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Hum Mol Genet. 2013 Feb 15;22(4):816-24. Epub 2012 Nov 11 PubMed.

    . Rare autosomal copy number variations in early-onset familial Alzheimer's disease. Mol Psychiatry. 2014 Jun;19(6):676-81. Epub 2013 Jun 11 PubMed.

    View all comments by Rudy Tanzi

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