Table 1.
Demographic and RFC1 intron repeat expansion mutation status according to clinical phenotype
| Pure sensory (n = 40) | Predominantly sensory (n = 56) |
Sensorimotor (n = 138) | P value | Effect size | |
|---|---|---|---|---|---|
| Age at onset, median (IQR), years | 58.3 (50.5–65.0) | 62.5 (52.0–69.0) | 64.0 (55.0–70.0) | 0.05a | |
| Disease duration, median (IQR), months | 36.0 (24.0–66.0) | 24.0 (18.0–60.0) | 48.0 (24.0–72.0) | 0.23 | |
|
Females, n (%, CI 95%) |
11 (28%, 15–44%) | 23 (41%, 28–55%) | 36 (26%, 19–34%) | 0.11 | φc = 0.137 |
|
AAAAGexp, n (%, CI 95%) |
1 (3%, 0–13%) | 3 (5%, 1–15%) | 5 (4%, 1–8%) | 0.80 | φc = 0.049 |
|
AAAGGexp, n (%, CI 95%) |
0 (0–9%) | 0 (0–6%) | 1 (1%, 0–4%) | > 0.99 | φc = 0.055 |
|
AAGGGexp, n (%, CI 95%) |
21 (53%, 36–68%) | 10 (18%, 9–30%) | 3 (2%, 0–6%) | < 0.001b | φc = 0.523 |
|
Compound or non-canonical expansion, n (%, CI 95%) |
1 (3%, 0–13%) | 4 (7%, 2–17%) | 4 (3%, 1–7%) | 0.32 | φc = 0.096 |
Tests reaching statistical significance are presented in bold
IQR interquartile range
aOn Dunn-Bonferroni post-hoc test no pairwise comparison between groups reached the significance value
bOn post-hoc z-test for independent proportions with Bonferroni correction each pairwise comparison between groups reached the significance value