In addition to the abovementioned pathological hallmarks specific for C9-HRE carriers, other hallmarks such as inclusions of accumulated sequestosome 1 (p62/SQSTM1, hereafter p62) and TAR DNA-binding protein-43 (TDP-43) have been detected in the central nervous system (CNS) of FTLD and ALS patients, including patients carrying the C9-HRE [18–22]. Here, SQSTM1 is linked to amyotrophic lateral sclerosis.