Figure 2 ALS blog

The authors assessed cerebellar tissues from twenty-eight C9orf72 expansion carriers. They were able to successfully characterize repeat expansions that ranged from 3.2 kb (~500 repeats) to 21.5 kb (~3500 repeats), capturing exact repeat counts as well as any interruption sequences present, and ultimately linking repeat expansion length to patient survival advantage. DeJesus-Hernandez, et al. (2021) Brain