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Rare genomic mutations found in 10 families with early-onset, familial Alzheimer's disease
Date:6/17/2013

so cause frontotemporal dementia.

Hooli explains, "Potential clinical application of the findings of this study are not yet clear and require two additional pieces of information: similar studies in larger groups of families with inherited Alzheimer's to establish the prevalence of these CNVs and whether the presence of one ensures development of the disease, and a better understanding of how these variants affect neuronal pathways leading to the early-onset form of Alzheimer's disease."

"In a broader sense," Tanzi adds, "the advent of affordable, advanced whole-genome sequencing will lead to the identification of novel, rare mutations that lead to many human disorders. In the future, diagnosis and prognosis may rely more on disease genetics than on traditional laboratory results and behavioral effects. If knowing the exact genetic causes of these disorders leads to more effective and efficient treatment strategies targeted to specific defects, the consequences of this approach would be enormous."


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Contact: Mike Morrison
mdmorrison@partners.org
617-724-6425
Massachusetts General Hospital
Source:Eurekalert

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