Table 2. Clinical and imaging characteristics of patients with CADASIL according to cysteine mutation type.
| Cysteine-involving (n = 55) | Cysteine-sparing (n = 24) | p-value | |
|---|---|---|---|
| Age at assessment (y), mean ± SD | 52.1 ± 12.5 | 56.0 ± 10.3 | 0.185 |
| Men, number (%) | 28 (51.9) | 10 (38.5) | 0.261 |
| Stroke risk factors, number (%) | |||
| Hypertension | 13 (23.6) | 5 (20.8) | 0.785 |
| Diabetes mellitus | 2 (3.6) | 3 (12.5) | 0.161 |
| Smoking | 22 (40.0) | 6 (25.0) | 0.200 |
| Clinical symptoms and signs, number (%) | |||
| Headache | 18 (32.7) | 8 (33.3) | 0.958 |
| Stroke | 34 (61.8) | 12 (50.0) | 0.327 |
| Mood disturbance | 15 (27.3) | 7 (29.2) | 0.863 |
| Cognitive impairment | 11 (20.0) | 9 (37.5) | 0.100 |
| White matter changes, number (%) | |||
| Total | 53 (96.4) | 24 (100.0) | >0.999 |
| Frontal | 52 (94.5) | 23 (95.8) | >0.999 |
| Parieto-occipital | 53 (96.4) | 24 (100.0) | >0.999 |
| Anterior temporal | 37 (67.3) | 6 (25.0) | 0.001 |
| External capsule | 35 (63.6) | 12 (50.0) | 0.256 |
| Infratentorial | 9 (16.4) | 6 (25.0) | 0.369 |
| Basal ganglia | 37 (67.3) | 16 (66.7) | 0.958 |
| Cerebral microbleeds, number (%) | |||
| Total | 22/39 (56.4) | 12/16 (75.0) | 0.197 |
| Infratentorial | 12/39 (30.8) | 9/16 (56.3) | 0.077 |
| Deep | 21/39 (53.8) | 11/16 (68.8) | 0.309 |
| Lobar | 13/39 (33.3) | 6/16 (37.5) | 0.768 |
CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; SD, standard deviation