UNC13A and STMN2 are two proteins that are depleted via CE-mediated mis-splicing and have critical neuronal functions which are relevant to disease pathogenesis: UNC13A is a synaptic protein required for neurotransmitter release and transmission of nerve impulses across the synapse3,4,6, and STMN2 is a microtubule-associated axonal protein crucial for neurite outgrowth7,8 and whose loss results in a slowly progressive, motor-selective neuropathy with functional deficits and neuromuscular junction denervation9. Here, STMN2 is linked to neuropathy.