Taken together, the studies in yeast and Drosophila provided the first evidence that C9orf72 repeat expansion causes degeneration by impairing nucleocytoplasmic transport of proteins and RNA [31–33]; however, the effect of C9FTD/ALS HRE on nucleocytoplasmic transport in human cells needs to be further investigated. The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.