Comparison of demographic, clinical and neuroradiological characteristics between the patients with cerebral small vessel disease with GGC repeat expansion in NOTCH2NLC and those without GGC repeat expansion
| Variables | Patients without GGC repeat expansion (n=805) | Patients with GGC repeat expansion (n=9) | P value |
| Age of onset (year) | 60.86±10.43 | 59.33±10.07 | 0.664 |
| Sex (male) | 427 (53.0%) | 5 (55.6%) | 0.881 |
| Muscle weakness | 175 (21.7%) | 3 (33.3%) | 0.666 |
| Sensory disturbance | 87 (10.8%) | 1 (11.1%) | 1.000 |
| Headache | 123 (15.3%) | 1 (11.1%) | 1.000 |
| Dizzy | 342 (42.5%) | 5 (55.6%) | 0.430 |
| Vision blurred | 50 (6.2%) | 0 (0.0%) | 1.000 |
| Speech impairment | 60 (7.5%) | 3 (33.3%) | 0.024* |
| Stroke | 288 (35.8%) | 5 (55.6%) | 0.219 |
| Hypertension | 542 (67.3%) | 6 (66.7%) | 0.966 |
| Diabetes mellitus | 157 (19.5%) | 1 (11.1%) | 0.834 |
| Hyperlipaemia | 267 (33.2%) | 1 (11.1%) | 0.297 |
| Hyperhomocysteinaemia | 230 (28.6%) | 4 (44.4%) | 0.499 |
| Coronary artery disease | 85 (10.6%) | 1 (11.1%) | 1.000 |
| Family history/stroke | 137 (17.1%) | 2 (22.2%) | 0.655 |
| White matter hyperintensity | 805 (100.0%) | 9 (100.0%) | NA |
| Lacunar infarcts | 582 (72.3%) | 7 (77.8%) | 0.715 |
| Enlarged perivascular spaces | 506 (62.9%) | 5 (55.6%) | 0.652 |
| Brain atrophy | 75 (9.3%) | 2 (22.2%) | 0.458 |
Data represent the mean±SD or the number (%) of subjects. For the measurement data that conform to the normal distribution, use the independent sample t test; for the measurement data that does not conform to the normal distribution, use the Mann-Whitney U test; for qualitative dichotomous variables, when T ≥ 5, use Pearson's χ2 test; T < 5 but T ≥ 1 use continuity-adjusted χ2 test; and T < 1 use Fisher's exact test. P<0.05 was considered statistically significant,
*Represents significant.
NA, not available.