Alterations in the level and function of splicing regulatory proteins have been described in a number of neurologic diseases: MBL in myotonic dystrophy (MD), Fused in Sarcoma (FUS) and 43-kDa transactivating responsive sequence DNA-binding protein (TDP-43) in Amyotrophic Lateral Sclerosis (ALS) and QKI in schizophrenia [95,96,97,98,99] have been demonstrated to be disease determining factors. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.