HAPLN1 and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy: Of these, BRCA1 (downregulated in hypermethylated cases, see Fig. 2b), SOX6 (upregulated in hypermethylated cases), and MUCL1 (downregulated in hypermethylated cases) showed differential expression also in SCAN-B cases (Wilcoxon’s test, p < 0.05), while HAPLN1 was borderline nonsignificant (Wilcoxon’s test, p = 0.051) when analyzed separately (not accounting for multiple testing).