However, it is notable that the G351A mutation of SQSTM1 was identified in a FTLD patient who also had a repeat expansion in C9orf72 (Miller et al., 2015), and similarly in an FTLD-PDB family with SQSTM1 mutation (P392L, within the UBA domain) a C9orf72 expansion segregated with frontal cognitive impairment or dementia (but not PDB) in all but one carrier (Almeida et al., 2015). The gene discussed is SQSTM1; the disease is dementia.