We have recently described a patient with clinical ALS, an intermediate expansion of 16 GGGGCC repeats and the 9p21 risk haplotype, but without the typical neuropathology associated with C9orf72 disease, including RNA foci, DPR inclusions, and TDP-43-negative, p62-positive neuronal inclusions in extramotor areas [123]. Here, C9orf72 is linked to amyotrophic lateral sclerosis.