Luke W Bonham, Ethan G Geier, Daniel W Sirkis, Josiah K Leong, Eliana Marisa Ramos, Qing Wang, Anna Karydas, Suzee E Lee, Virginia E Sturm, Russell P Sawyer, Adit Friedberg, Justin K Ichida, Aaron D Gitler, Leo Sugrue, Michael Cordingley, Walter Bee, Eckard Weber, Joel Kramer, Katherine P Rankin, Howard J Rosen, Adam L Boxer, William W Seeley, John Ravits, Bruce L Miller, Jennifer S Yokoyama
Hexanucleotide repeat expansion (HRE) within C9orf72 is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately, emerging evidence suggests widespread de-repression of transposable elements (TEs) in the brain in several neurodegenerative diseases, including C9orf72 HRE-mediated FTD (C9-FTD). Whether TE activation can be measured in peripheral blood and how the reduction in peripheral C9orf72 expression observed in HRE carriers relates to atrophy and clinical impairment remain unknown...
November 28, 2022: Journal of Neuroscience