Table 3.
Neuropathological features according to pathogenetic RFC1 repeat expansion mutation status
|
RFC1-positive (n = 34) |
Non-mutated (n = 200) | P value | Effect size | |
|---|---|---|---|---|
| Involvement of selected nerve fibers, n (%) | ||||
| Large myelinated nerve fibers | 34 (100%) | 198 (99%) | a | |
| Small myelinated nerve fibers | 33 (97%) | 162 (81%) | 0.02 | POR 7.74 (1.03–58.4) |
| Unmyelinated nerve fibers | 29 (85%) | 81 (41%) | < 0.001 | POR 8.52 (3.17–22.9) |
| Active degeneration, n (%) | ||||
| Absent | 16 (47%) | 83 (42%) | 0.47 | τb = − 0.046 |
| Rare | 17 (50%) | 106 (53%) | ||
| Occasional | 1 (3%) | 9 (5%) | ||
| Diffuse | 0 | 2 (1%) | ||
| Regeneration clusters, n (%) | ||||
| Absent | 17 (50%) | 20 (10%) | < 0.001 | τb = − 0.362 |
| Rare | 16 (47%) | 92 (46%) | ||
| Occasional | 1 (3%) | 64 (32%) | ||
| Diffuse | 0 | 24 (12%) | ||
| Microangiopathy, n (%) | ||||
| Absent | 17 (50%) | 117 (59%) | 0.34 | τb = − 0.060 |
| Occasional | 11 (32%) | 54 (27%) | ||
| Diffuse | 6 (18%) | 28 (14%) | ||
Tests reaching statistical significance are presented in bold
aNot tested due to extreme counts