In addition to PURA syndrome, the PURA protein has been found in pathological, RNA-containing foci of patients with the RNA-repeat expansion diseases such as fragile X-associated tremor ataxia syndrome (FXTAS) and amyotrophic lateral sclerosis (ALS)/fronto-temporal dementia (FTD) spectrum disorder. The gene discussed is PURA; the disease is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.