Table 3.
Comparison between VCI-SVD patients with pathogenic NOTCH3 variants with VCI-SVD patients without pathogenic variants.
| NOTCH3 (N = 17) | Negative (N = 18) | P-value | |
|---|---|---|---|
| Male (%) | 7 (41.2) | 8 (44.4) | 1.000 |
| Chinese (%) | 16 (94.1) | 15 (83.3) | 0.603 |
| Mean age at onset (range), years | 54.0 (40–64) | 55.9 (41–65) | 0.344 |
| First symptom: Cognitive impairment (%) | 6 (35.3) | 11 (61.1) | 0.272 |
| First symptom: Parkinsonism (%) | 3 (17.6) | 2 (11.1) | 0.775 |
| Migraine with aura (%) | 1 (5.9) | 3 (16.7) | 0.603 |
| Hemorrhagic stroke (%) | 4 (23.5) | 1 (5.6) | 0.177 |
| Ischemic stroke (%) | 8 (47.1) | 6 (33.3) | 0.500 |
| Mean MMSE (range) | 25 (15–30) | 22 (0–30) | 0.273 |
| Mean MOCA (range) | 22 (9–28) | 19 (0–29) | 0.679 |
| Depression (%) | 7 (41.2) | 4 (22.2) | 0.237 |
| Epilepsy (%) | 1 (5.9) | 1 (5.6) | 1.000 |
| Parkinsonism (%) | 6 (35.3) | 2 (11.1) | 0.121 |
| Tremor (%) | 0 (0) | 0 (11.1) | 1.000 |
| Rigidity (%) | 6 (35.3) | 2 (11.1) | 0.121 |
| Bradykinesia (%) | 6 (35.3) | 2 (11.1) | 0.121 |
| Gait difficulty (%) | 4 (23.5) | 2 (11.1) | 0.506 |
| Hypertension (%) | 9 (52.9) | 15 (83.3) | 0.075 |
| Hyperlipidaemia (%) | 9 (52.9) | 11 (61.1) | 0.738 |
| Diabetes mellitus (%) | 1 (5.9) | 6 (33.3) | 0.088 |
| Smoking (%) | 1 (5.9) | 2 (11.1) | 1.000 |
| Alcohol (%) | 0 (0) | 1 (5.6) | 1.000 |
| Family History (%) | 10 (58.8) | 6 (33.3) | 0.181 |
| MRI | |||
| Mean Fazekas score WMH (range) | 3 (1–3) | 2.5 (1–3) | 0.112 |
| Mean Fazekas score PVH (range) | 3 (1–3) | 2 (0–3) | 0.058 |
| Anterior temporal (%) | 6 (35.3) | 0 (0) | 0.008 |
| External capsule (%) | 13 (76.5) | 9 (50.0) | 0.164 |
| PVH (%) | 17 (100.0) | 16 (88.9) | 0.486 |
| WMH (%) | 17 (100.0) | 18 (100.0) | 1.000 |
| BG hyperintensity (%) | 16 (94.1) | 11 (61.1) | 0.041 |
| Infratentorial hyperintensity (%) | 11 (64.7) | 9 (50.0) | 0.500 |
| Microbleeds overall (%) | 10 (58.8) | 6 (33.3) | 0.181 |
| Microbleeds cortical-subcortical (%) | 8 (47.1) | 5 (27.8) | 0.305 |
| Microbleeds BG (%) | 10 (58.8) | 6 (33.3) | 0.181 |
| Microbleeds brainstem (%) | 9 (52.9) | 4 (22.2) | 0.086 |
| Microbleeds cerebellum (%) | 7 (41.2) | 2 (11.1) | 0.060 |
BG, basal ganglia; MMSE, mini mental state examination; MOCA, Montreal cognitive assessment; PVH, periventricular hyperintensity; WMH, deep white matter hyperintensity.