Abstract
In this international collaborative study searching for genetic modifiers in familial frontotemporal dementia (FTD), van Blitterswijk et al.1 detected C9ORF72 repeat expansions in 1.8% of 217 North American and Italian families harboring progranulin ( GRN ) or microtubule-associated protein tau ( MAPT ) gene mutations. Since the GRN/MAPT mutations harbored by the families were different, it does not seem a mutation-specific effect. All double mutation carriers had an early disease onset, though the small number of double mutation carriers did not allow statistical comparisons with the FTD group without double mutations. Double mutation carriers showed a behavioral FTD presentation with no motor neuron signs, which are frequently seen in FTD families with expansion of the C9ORF72 gene.2,3
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