TABLE 6.
Comparison of clinical features between patients carrying pathogenic variants and VUS.
| Proband patients carrying PVa (n = 33) | Proband patients carrying VUSb (n = 5) | Family members carrying VUS included (n = 9) | p-valuec | p-valued | |
| Sex (M/F) | 17/16 | 2/3 | 4/5 | >0.999 | >0.999 |
| Age at onset (year, mean ± SD) | 45.97 ± 9.44 | 55.40 ± 5.51 | 55.29 ± 5.35 | 0.037 | 0.016 |
| Risk factor [number (%)] | 11 (33.33%) | 2 (40.00%) | 4 (44.44%) | >0.999 | 0.698 |
| Symptoms [number (%)] | |||||
| Ischemic stroke | 23 (69.70%) | 4 (80.00%) | 6/7 (85.71%) | >0.999 | 0.650 |
| Hemorrhagic stroke | 6 (18.18%) | 1 (20.00%) | 1/7 (14.29%) | >0.999 | >0.999 |
| Migraine | 7 (21.21%) | 1 (20.00%) | 1/7 (14.29%) | >0.999 | >0.999 |
| Cognitive impairment | 16 (48.48%) | 4 (80.00%) | 6/7 (85.71%) | 0.344 | 0.105 |
| Psychiatric disorders | 7 (21.21%) | 0 (0.00%) | 0/7 (0.00%) | 0.561 | 0.317 |
| WHM involvement [number (%)] | |||||
| External capsule | 29 (87.88%) | 4 (80.00%) | 8 (88.89%) | 0.527 | >0.999 |
| Anterior temporal lobe | 16 (48.48%) | 1 (20.00%) | 2 (22.22%) | 0.355 | 0.258 |
| WMH ratinge | |||||
| Infratentorial | 2.09 ± 1.68 | 1.60 ± 1.34 | 1.67 ± 1.12 | 0.593 | 0.481 |
| Perivetricular | 4.91 ± 0.84 | 4.60 ± 1.14 | 4.56 ± 1.01 | 0.469 | 0.292 |
| Frontal | 5.24 ± 0.94 | 5.00 ± 1.00 | 4.78 ± 1.10 | 0.596 | 0.210 |
| Parietal | 4.94 ± 0.86 | 4.60 ± 0.89 | 4.44 ± 0.89 | 0.420 | 0.173 |
| Temporal | 2.88 ± 2.29 | 1.00 ± 2.24 | 1.44 ± 2.07 | 0.095 | 0.097 |
| Occipital | 1.61 ± 1.12 | 1.60 ± 1.34 | 1.67 ± 1.00 | 0.991 | 0.884 |
| External capsule | 2.94 ± 1.87 | 3.80 ± 1.79 | 4.00 ± 1.58 | 0.324 | 0.128 |
| CMB burden [number (%)] | |||||
| 0 | 3 (9.10%) | 1 (20.00%) | 2/8 (25.00%) | 0.446 | 0.247 |
| 1 | 13 (39.39%) | 2 (40.00%) | 4/8 (50.00%) | >0.999 | 0.698 |
| 2 | 17 (51.52%) | 2 (40.00%) | 2/8 (25.00%) | >0.999 | 0.249 |
| GOM detected in skin biopsy [number (%)] | 9/11 (81.82%) | NP | NP | NP | NP |
aPV, pathogenic variant. bVUS, variant of unknown significant. cProband patients carrying cysteine-affecting PV vs. proband patients carrying cysteine-sparing PV. dProband patients carrying cysteine-affecting PV vs. genetically confirmed patients carrying cysteine-sparing PV. eWhite matter hyperintensity rating by the modified Schelten’s scale.