Comparison between patients with NOTCH3 p.R544C mutation with and without prominent juxtacortical white matter lesion
| NOTCH3 mutation, juxtacortical WML (+) | NOTCH3 mutation, juxtacortical WML (−) | Non-mutation, juxtacortical WML (+) | |
| Number | 9 | 4 | 47 |
| Age | 67.3±10.1 | 57.3±14.6 | 71.8±11.7 |
| Male sex | 6 (66.7%) | 2 (50.0%) | 32 (68.1%) |
| ICH location | |||
| Thalamus | 4 (44.4%) | 2 (50.0%) | 19 (40.4%) |
| Basal ganglia | 2 (22.2%) | 1 (25.0%) | 8 (17.0%) |
| Cortical-subcortical | 1 (11.1%) | 0 (0.0%) | 11 (23.4%) |
| Infratentorium | 2 (22.2%) | 1 (25.0%) | 9 (19.1%) |
| ICH size, mL | 13.4±17.7 | 13.4±21.3 | 13.0±17.5 |
| IVH | 3 (33.3%) | 1 (25.0%) | 21 (44.7%) |
| CT features | |||
| Anterior WML score | 1.9±0.3 | 0.3±0.5 | 1.9±0.3 |
| Posterior WML score | 1.9±0.3 | 0.3±0.5 | 1.9±0.3 |
| Total WML score | 3.8±0.4 | 0.5±1.0 | 3.8±0.5 |
| Anterior temporal lobe WML | 0 (0%) | 0 (0%) | 1 (2.1%) |
| External capsule WML | 6 (66.7%) | 0 (0%) | 21 (44.7%) |
| Cortical atrophy score | 1.2±0.8 | 0.5±0.6 | 1.2±0.7 |
| Central atrophy score | 1.4±0.9 | 0.5±1.0 | 1.6±0.6 |
| Total atrophy score | 2.7±1.7 | 1.0±1.4 | 2.9±1.1 |
| Presence of lacune | 7 (77.8%) | 1 (25.0%) | 30 (63.8%) |
| Number of lacune | 2.7±2.2 | 0.3±0.5 | 2.3±2.8 |
| Prominent lobar lacune | 2 (22.2%) | 1 (25.0%) | 8 (17.0%) |
ICH, intracerebral haemorrhage; IVH, intraventricular haemorrhage; WML, white matter lesion.