Reduced activity in PRPS1 is associated with neurological disorders, such as Arts syndrome, Charcot-Marie-Tooth disease type 5 (CMTX5), X-linked syndromic/nonsyndromic sensorineural deafness (DFN2/DFNX2) and retinal dystrophy. This evidence concerns the gene PRPS1 and Lethal ataxia with deafness and optic atrophy.