SMN2 and proximal spinal muscular atrophy: On its side, SAM68 has been also associated with neurogenesis and spinal muscular atrophy (SMA) [68, 69], possibly via the splicing of pre-mRNA transcripts critically involved in human neuronal diseases such as SMN2. In addition, the presence of large intranuclear SAM68 aggregates in brain sections of patients affected by Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) has been confirmed and linked also with altered splicing functions [70].