In the present study, we identified a novel missense variant in the ELF2 gene (E74-like factor 2; NERF), which segregates the complete phenotype and we present functional data showing the effect of mutated ELF2 (mt-ELF2) gene on ATXN2 and ELOVL5 two genes previously associated with spinocerebellar ataxia 2 and 38 (SCA2 and SCA38). This evidence concerns the gene ELF2 and spinocerebellar ataxia type 2.