TABLE 1.
Patient characteristics by EGFr group and disease severity
| Location of NOTCH3 cys variant | EGFr 1–6 | EGFr 1–6 | EGFr 7–34 | EGFr 7–34 | P value a |
|---|---|---|---|---|---|
| Phenotype | Severe | Mild | Severe | Mild | |
| N | 6 | 6 | 6 | 7 | |
| Age, mean (sd) | 55.5 (2.2) | 56.0 (2.8) | 56.0 (3.4) | 54.4 (3.2) | n.s. |
| Female, n (%) | 1 (17%) | 4 (67%) | 2 (33%) | 5 (71%) | n.s. |
| NOTCH3 cys variant (n) | R110C (1) | R141C (1) | R544C (1) | C568Y (1) | |
| R141C (1) | R169C (1) | C568Y (1) | R578C (5) | ||
| C144F (1) | R207C (3) | R578C (2) | G667C (1) | ||
| R153C (2) | C222Y (1) | C1015R (1) | |||
| R182C (1) | R1076C (1) | ||||
| Smoking, n (%) | 3 (50%) | 3 (50%) | 3 (50%) | 5 (71%) | n.s. |
| Hypertension, n (%) | 1 (17%) | 2 (33%) | 4 (67%) | 1 (14%) | n.s. |
| Hypercholesterolemia, n (%) | 2 (33%) | 1 (17%) | 3 (50%) | 1 (14%) | n.s. |
| mRS, n (%) | 0.005 b | ||||
| 0–1 | 0 (0%) | 5 (83%) | 2 (33%) | 6 (86%) | |
| ≥2 | 6 (100%) | 1 (17%) | 4 (67%) | 1 (14%) | |
| Prior clinical stroke, n (%) | 5 (83%) | 0 (0%) | 3 (50%) | 0 (0%) | 0.004 b |
| Presence of lacunes, n (%) | 6 (100%) | 0 (0%) | 6 (100%) | 0 (0%) | <0.001 b |
| Fazekas dwm, n (%) | <0.001 c | ||||
| 0–2 | 0 (0%) | 0 (0%) | 0 (0%) | 7 (100%) | |
| 3 | 6 (100%) | 6 (100%) | 6 (100%) | 0 (0%) |
Note: n: number; sd: standard deviation; n.s.: not significant.
a
P value for overall differences between patient groups (Chi‐square; two‐way ANOVA).
b
Statistical significance attributed to differences between severe and mild patients. No statistically significant difference between severely affected patients with a NOTCH3 cys EGFr 1–6 versus EGFr 7–34 variant, nor between mildly affected patients with an EGFr 1–6 versus EGFr 7–34 variant.
c
No statistically significant difference between EGFr 1–6 severe group and EGFr 7–34 severe group, but the EGFr 1–6 mild group had higher Fazekas deep white matter (dwm) scores than the EGFr 7–34 mild group (P = 0.001).