Fig. 6: Disease progression and age at onset (AAO).

A SARA scores of 40 patients with FGF14 expansions (n = 158 measurements). B ICARS scores of 40 patients with FGF14 repeat expansions (n = 154 measurements). In graphs shown in (A and B) patients with 250-299 repeats and patients with ≥ 300 repeats appear in red and blue, respectively. Scores from the same patients at different time points are connected with dashed lines. Numbered last data points mark lines corresponding to atypical patients (#1–6) or patients with biallelic expansions (#1–3 and #7–9; Supplementary Information). SARA and ICARS scores are clinical rating scales used for semi-quantitative assessment of cerebellar ataxia (methods). C Comparison of the AAO in SCA27A/SCA27B-negative patients, patients with different expansion sizes: 180–249, 250–299 and ≥ 300 repeats; and two patients with p.(Leu80*). D Comparison of the AAO in SCA27A/SCA27B-negative patients, and SCA27B patients (repeat size ≥ 250 repeats). E Meta-analysis comparing the AAO in patients with expansions between 250 and 299 repeats, patients with ≥ 300 repeats, patients with nonsense or frameshift variants in FGF14 or patients with p.Phe150Ser, showing that patients with pathogenic point variants (SCA27A) have an earlier age at onset than patients with repeat expansions (SCA27B). Box plot elements in C) to E) are defined as follows: center line: median; box limits: upper and lower quartiles; whiskers: 1.5× interquartile range; points: outliers; and comparisons were performed by applying Mann-Whitney U test, two-sided, followed by Holm correction for multiple testing. F Correlation between the AAO and AAG repeat number including only patients from this study. G Correlation between the AAO and AAG repeat number taking all patients from this study (red) and patients from previous studies (black) into account. For graphs F) and G), R² is the square value of the Pearson correlation coefficient (two-sided) and 95% confidence intervals appear in light gray.