Of the variants in this region, rs3184504 is of particular interest, because it is a non-synonymous change (TGG → CGG; p.Trp262Arg) in the pleckstrin homology domain of SH2B3, which is a priori a much stronger candidate than the spinocerebellar ataxia gene ATXN2. SH2B3 is a member of the SH2B adaptor family of proteins and is involved in a range of signalling activities by growth factor and cytokine receptors. This evidence concerns the gene SH2B3 and cerebellar ataxia.