We combine this with molecular and structural insights and provide an update of PURA’s role in neuronal disorders, such as Fragile X-associated tremor ataxia syndrome (FXTAS), the amyotrophic lateral sclerosis (ALS), fronto-temporal dementia (FTD) spectrum disorder, and the PURA syndrome. This evidence concerns the gene PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.