The mutations of PRPS1 lead to some neurodevelopmental diseases too, including PRS-I superactivity, Charcot-Marie-Tooth disease-5 (CMTX5, or Rosenberg-Chutorian syndrome), Arts syndrome, and X-linked nonsyndromic sensorineural deafness (DFN2) (Brouwer et al., 2010). This evidence concerns the gene PRPS1 and Lethal ataxia with deafness and optic atrophy.