Brain atrophy and gene expression in frontotemporal dementia

Takeaway

  • Brain regions enriched with astrocyte and endothelial cell genes may be more actively involved in neurodegeneration onset in autosomal dominant frontotemporal dementia (FTD) than previously assumed, versus those enriched with neuronal and glial cell genes.

Why this matters

  • Autosomal dominant FTD is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) or C9orf72 genes; however, the biological mechanisms linking these mutations to specific clinical phenotypes are unknown.

  • A deeper understanding of the pathophysiology of genetic FTD may impact targeted therapy development, leading to earlier intervention and potentially delaying onset of clinical symptoms, thereby increasing life expectancy and quality of life for these patients.