Additionally, the NMJs of SMA models and patients display a massive accumulation of NF in terminal axons, due to an aberrant cytoskeletal organization of synaptic terminals, associated with defect of axonal sprouting and reduction of branched structures of the postsynaptic apparatus (Cifuentes-Diaz et al., 2002). Here, NFASC is linked to proximal spinal muscular atrophy.