Abstract:We identified an individual with reduced penetrance (RedPenMC) associated with an autosomal dominant progranulin (GRN) pathogenic variant (p.Tyr294*) causing frontotemporal dementia. The RedPenMC carrier had no signs or symptoms of frontotemporal lobar degeneration in life or at autopsy. This resistance to develop expected pathology gives a unique opportunity to interrogate neurodegenerative mechanisms, identify protective disease modifiers, and gain new therapeutic insights. We performed multimodal droplet-b… Show more
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