FAM98B has been linked to SMA and ALS50, VCP mutations can cause FTD, ALS and Charcot-Marie-Tooth diseases51,52, HINT1 autosomal recessive mutations lead to neuromytotonia and axonal neuropathy53, PAFAHB1 mutations and gene deletions lead to lissencephaly syndrome54 and RBM4 is linked to Down’s syndrome55 (Fig. 6a, b). Here, RBM4 is linked to amyotrophic lateral sclerosis.