In addition to these specific pathological hallmarks present only in the C9orf72 HRE carriers, inclusions of accumulated Sequestosome 1/p62 and TAR DNA-binding protein (TDP)-43 have been detected in FTLD and ALS patients, including C9orf72 HRE carriers (35–41). Here, C9orf72 is linked to amyotrophic lateral sclerosis.