Characteristics of progression and non-progression groups
| First admission | Progression (n=40) | Non-progression (n=62) | P value |
| Female | 21 (52.5) | 36 (58.1) | 0.581 |
| Age at diagnosis (years) | 0.001 | ||
| Median (Q1, Q3) | 28.50 (9.00–36.00) | 37.50 (25.75–45.25) | |
| Range | 3–44 | 3–60 | |
| Vascular risk factors | |||
| Hypertension | 6 (15.0) | 21 (33.9) | 0.035 |
| Diabetes | 1 (2.5) | 8 (12.9) | 0.147 |
| Hyperlipidaemia | 5 (12.5) | 8 (12.9) | 0.952 |
| Hyperhomocysteinaemia | 6 (15.0) | 9 (14.5) | 0.946 |
| Hyperthyroidism | 2 (5.0) | 3 (4.8) | 1.000 |
| Coronary heart disease | 0 | 4 (6.5) | 0.153 |
| Family history | 3 (7.5) | 3 (4.8) | 0.899 |
| Primary symptom at onset | |||
| Asymptomatic | 0 | 1 (1.6) | 1.000 |
| TIA | 24 (60.0) | 41 (66.1) | 0.530 |
| Infarction | 6 (15.0) | 6 (9.7) | 0.415 |
| Haemorrhage | 7 (17.5) | 12 (19.4) | 0.814 |
| Headache | 2 (5.0) | 1 (1.6) | 0.698 |
| Others | 1 (2.5) | 1 (1.6) | 1.000 |
| Initial mRS score >2 | 0 | 3 (4.8) | 0.278 |
| MCA-ACA | 0.001 | ||
| Good | 16 (40.0) | 46 (74.2) | |
| Poor | 24 (60.0) | 16 (25.8) | |
| Leptomeningeal collateral assessment | 7.73±1.50 | 7.35±1.88 | 0.265 |
| PCA involvement | 2 (5.0) | 9 (14.5) | 0.236 |
| HR-MRI features | |||
| Negative remodelling | 36 (90.0%) | 50 (80.6%) | 0.205 |
| Outer diameter of A1 segment of ACA | 1.39±0.58 | 1.64±0.64 | 0.042 |
| Outer diameter of ipsilateral vertebral artery | 3.00±0.30 | 3.19±0.23 | 0.002 |
| Remodelling index | 0.54±0.17 | 0.49±0.18 | 0.148 |
| Mutation | 0.016 | ||
| GG | 26 (65.0) | 53 (85.5) | |
| GA | 14 (35.0) | 9 (14.5) | |
| Neuropsychological assessment | |||
| MoCA | 22.35±4.98 | 22.03±3.50 | 0.631 |
| IADL | 14.12±0.49 | 14.41±1.32 | 0.576 |
| HAMD-17 | 3.24±2.61 | 5.69±4.52 | 0.082 |
| Follow-up | |||
| Follow-up duration (month) | 0.223 | ||
| Median (Q1, Q3) | 18.50 (8.25–25.75) | 18.00 (10.75–36.50) | |
| Range | 6–58 | 6–84 | |
| New infarction | 8 (20.0) | 4 (6.5) | 0.079 |
| Progress of PCA | 3 (7.5) | 5 (8.1) | 1.000 |
| Leptomeningeal collateral assessment | 6.25±1.57 | 7.79±1.43 | ＜0.001 |
Results are expressed as number (%), mean±SD or median (IQR).
GA, heterozygous RNF213 p.R4810K; GG, wild type RNF213 p.R4810K; HAMD-17, 17-item Hamilton Rating Scale for Depression; IADL, Instrumental Activity of Daily Living Scale; MCA-ACA, compensation from the middle cerebral artery to the anterior cerebral artery; MoCA, Montreal Cognitive Assessment; mRS, Modified Rankin Scale; PCA, posterior cerebral artery; TIA, transient ischaemic attack.