Fig. 4: Distribution of FGF14 alleles in patients with cerebellar ataxia and control subjects.

A Median number of triplets of both alleles for the 59 patients with ataxia and 64 control individuals sequenced by nanopore sequencing. Pure AAG alleles are depicted as blue dots with a white fill. AAGGAG alleles appear in orange. Alleles with interruptions are depicted as blue dots with a dark blue fill. Alleles with interruptions limited to the 5’ or 3’ of the expansion are depicted as blue dots with a light blue fill. B Comparison of median allele sizes (larger alleles only; Mann-Whitney U test, two-sided) in index patients with cerebellar ataxia (n = 148) and control subjects (n = 802). Blue: AAG; orange: AAGGAG; gray: unknown main motif. C Density plot showing the different distributions of the number of triplets in the larger allele for index patients with cerebellar ataxia (n = 148; orange) and control subjects (n = 802; blue). D Log odds ratio according to repeat numbers of the larger allele (148 index patients with cerebellar ataxia and 802 control subjects) showing a significant enrichment of all classes of larger alleles ≥ 180 repeats in patients with cerebellar ataxia (Fisher’s tests, two-sided, adjusted for multiple comparisons using Bonferroni correction; yellow: enrichment; gray: depletion). Each bar represents a single data point. Figures similar to (B and D) but considering all alleles appear in Supplementary Fig. 5.