T cell determinants of inherited FTD/ALS

A mutation in C9ORF72, is the most common cause of Frontotemporal dementia and Amyotrophic lateral sclerosis, neurodegenerative disorders that together affect approximately sixty thousand individuals in the United States and approximately 1.4 million people worldwide. Mice that model the C9ORF72 mutation develop severe inflammation of the brain and spinal cord that is characterized by accumulation of T cells in the periphery and brain that produce high levels of the pro-inflammatory cytokine IL-17. We use animal and patient derived T cells to determine how the C9ORF72 mutation affects T cell fate choice and function to reveal pathways important for neurodegeneration and in the future could serve as a diagnostic for risk of dementia conversion.