Comparison of WMH distribution on the modified Schelten’s scale between NOTCH3 variant carriers and non-carriers
| Brain regions | Number (%) of non-carrier cases | Number (%) of mutation cases | OR (95% CI) | P value |
| Periventricular white matter | 108 (73) | 36 (80) | 1.51 (0.65 to 3.88) | 0.34 |
| Frontal white matter | 119 (80) | 40 (89) | 1.40 (0.50 to 4.57) | 0.53 |
| Parietal white matter | 79 (53) | 34 (76) | 2.44 (1.11 to 5.68) | 0.03 |
| Occipital white matter | 45 (30) | 20 (44) | 1.82 (0.88 to 3.80) | 0.11 |
| Anterior temporal white matter | 12 (9) | 17 (38) | 7.65 (3.14 to 19.81) | <0.001 |
| Posterior temporal white matter | 45 (30) | 14 (31) | 0.94 (0.42 to 2.03) | 0.87 |
| Corpus callosum | 7 (5) | 5 (11) | 2.34 (0.65 to 7.95) | 0.18 |
| Caudate | 1 (1) | 3 (7) | 7.80 (1.30 to 72.60) | 0.03 |
| Putamen | 16 (11) | 9 (20) | 1.97 (0.77 to 4.88) | 0.15 |
| Globus pallidus | 4 (3) | 0 (0) | 0.19 (0.00 to 2.13) | 0.21 |
| Thalamus | 4 (3) | 6 (13) | 3.90 (1.05 to 14.91) | 0.04 |
| Internal capsule | 3 (2) | 2 (4) | 2.20 (0.35 to 11.12) | 0.37 |
| External capsule | 9 (6) | 17 (38) | 13.32 (4.96 to 39.89) | <0.001 |
| Cerebellum | 4 (3) | 3 (7) | 2.10 (0.43 to 8.91) | 0.34 |
| Mesencephalon | 3 (2) | 2 (4) | 3.84 (0.57 to 27.84) | 0.16 |
| Pons | 25 (17) | 11 (24) | 1.51 (0.64 to 3.46) | 0.34 |
| Medulla | 2 (1) | 0 (0) | 0.80 (0.01 to 8.86) | 0.87 |
Table showing the effect of the presence of NOTCH3 variants on the odds of developing any WMH in each brain region.
WMH, white matter hyperintensity.