Table 4

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 (+)
Number9447
Age67.3±10.157.3±14.671.8±11.7
Male sex6 (66.7%)2 (50.0%)32 (68.1%)
ICH location
 Thalamus4 (44.4%)2 (50.0%)19 (40.4%)
 Basal ganglia2 (22.2%)1 (25.0%)8 (17.0%)
 Cortical-subcortical1 (11.1%)0 (0.0%)11 (23.4%)
 Infratentorium2 (22.2%)1 (25.0%)9 (19.1%)
ICH size, mL13.4±17.713.4±21.313.0±17.5
IVH3 (33.3%)1 (25.0%)21 (44.7%)
CT features
 Anterior WML score1.9±0.30.3±0.51.9±0.3
 Posterior WML score1.9±0.30.3±0.51.9±0.3
 Total WML score3.8±0.40.5±1.03.8±0.5
 Anterior temporal lobe WML0 (0%)0 (0%)1 (2.1%)
 External capsule WML6 (66.7%)0 (0%)21 (44.7%)
 Cortical atrophy score1.2±0.80.5±0.61.2±0.7
 Central atrophy score1.4±0.90.5±1.01.6±0.6
 Total atrophy score2.7±1.71.0±1.42.9±1.1
 Presence of lacune7 (77.8%)1 (25.0%)30 (63.8%)
 Number of lacune2.7±2.20.3±0.52.3±2.8
 Prominent lobar lacune2 (22.2%)1 (25.0%)8 (17.0%)
  • ICH, intracerebral haemorrhage; IVH, intraventricular haemorrhage; WML, white matter lesion.