SACS and cerebellar ataxia: Interestingly, this demonstrated a significantly higher burden of rare potentially pathogenic LoF variants in the typically childhood-onset ataxia genes SACS and POLR3A [both odds ratio (OR) 7.038, FDR P = 0.032, 95% CI:1.948–24.512] and rare, predicted potentially pathogenic variants (Exomiser score >0.8) in POLR3A (OR 3.461, FDR P = 0.018, 95% CI: 1.655–6.840) amongst individuals with adult-onset ataxia (Fig. 6B) (Supplementary Table 8).