TABLE 5.
Comparison of clinical features between patients carrying cysteine-affecting and cysteine-sparing pathogenic NOTHC3 variants.
| Proband patients carrying cysteine-affecting PVa (n = 28) | Proband patients carrying cysteine-sparing PVa (n = 5) | Family members carrying cysteine-sparing PVa (n = 14) | p-valueb | p-valuec | |
| Sex (M/F) | 16/12 | 1/4 | 5/9 | 0.175 | 0.326 |
| Age at onset (year, mean ± SD) | 44.96 ± 8.82 | 51.60 ± 11.85 | 51.36 ± 7.06 | 0.150 | 0.023 |
| Risk factor [number (%)] | 11 (39.29%) | 2 (40.00%) | 6 (42.86%) | >0.999 | >0.999 |
| Symptoms [number (%)] | |||||
| Ischemic stroke | 23 (82.14%) | 5 (100.00%) | 12 (85.71%) | 0.569 | >0.999 |
| Hemorrhagic stroke | 6 (21.43%) | 0 (0.00%) | 1 (7.14%) | 0.556 | 0.392 |
| Migraine | 7 (25.00%) | 1 (20.00%) | 2 (14.29%) | >0.999 | 0.693 |
| Cognitive impairment | 13 (46.42%) | 3 (60.00%) | 9 (64.29%) | 0.656 | 0.338 |
| Psychiatric disorders | 7 (25.00%) | 1 (20.00%) | 2 (14.29%) | >0.999 | 0.693 |
| WHM involvement [number (%)] | |||||
| External capsule | 24 (85.71%) | 5 (100.00%) | 13 (92.86%) | >0.999 | 0.650 |
| Anterior temporal lobe | 14 (50.00%) | 2 (40.00%) | 5 (28.57%) | >0.999 | 0.515 |
| WMH ratingd (mean ± SD) | |||||
| Infratentorial | 2.14 ± 1.76 | 1.80 ± 1.30 | 1.57 ± 1.02 | 0.682 | 0.269 |
| Perivetricular | 4.86 ± 0.89 | 5.20 ± 0.55 | 4.86 ± 0.77 | 0.411 | >0.999 |
| Frontal | 5.21 ± 0.96 | 5.40 ± 0.89 | 5.29 ± 0.73 | 0.690 | 0.807 |
| Parietal | 4.86 ± 0.89 | 5.40 ± 0.55 | 4.79 ± 1.05 | 0.200 | 0.819 |
| Temporal | 3.11 ± 2.32 | 1.60 ± 1.82 | 1.50 ± 1.74 | 0.179 | 0.027 |
| Occipital | 1.68 ± 1.12 | 1.20 ± 1.10 | 1.43 ± 0.94 | 0.386 | 0.478 |
| External capsule | 2.75 ± 1.90 | 4.00 ± 1.41 | 2.93 ± 1.73 | 0.172 | 0.769 |
| CMB burden [number (%)] | |||||
| 0 | 3.00 (10.71%) | 0 (0.00%) | 0/11 (0.00%) | >0.999 | 0.545 |
| 1 | 12 (42.86%) | 1 (20.00%) | 6/11 (54.55%) | 0.625 | 0.723 |
| 2 | 13 (46.43%) | 4 (80.00%) | 5/11 (45.45%) | 0.335 | >0.999 |
| GOM detected in skin biopsy [number (%)] | 9/11 (81.82%) | 2/2 (100%) | 2/2 (100.00%) | >0.999 | >0.999 |
aPV, pathogenic variant. bProband patients carrying cysteine-affecting PV vs. proband patients carrying cysteine-sparing PV. cProband patients carrying cysteine-affecting PV vs. genetically confirmed patients carrying cysteine-sparing PV. dWhite matter hyperintensity rating by the modified Schelten’s scale.