Characteristics of patients with ACA-occlusive MMD
| Number (n=139) | % | |
| Sex ratio (F/M) | 1.32:1 (79:60） | |
| Median age at diagnosis (range) | 36 (3–65) | |
| Age <18 years old | 27 | 19.4 |
| Vascular risk factors | ||
| Hypertension | 41 | 29.5 |
| Diabetes | 14 | 10.1 |
| Hyperlipidaemia | 21 | 15.1 |
| Hyperhomocysteinaemia | 22 | 15.8 |
| Hyperthyroidism | 6 | 4.3 |
| Coronary heart disease | 7 | 5.0 |
| Family history | 7 | 5.0 |
| Primary symptom at onset | ||
| Asymptomatic | 1 | 0.7 |
| Transient ischaemic attack | 87 | 62.6 |
| Infarction | 15 | 10.8 |
| Haemorrhage | 24 | 17.3 |
| Headache | 6 | 4.3 |
| Others | 6 | 4.3 |
| Initial mRS score >2 | 5 | 3.6 |
| Side ratio (right:left) | 1.28:1 (78:61) | |
| PCA involvement | 20 | 14.4 |
| HR-MRI features | ||
| Negative remodelling | 122 | 87.8% |
| Outer diameter of A1 segment of ACA (mean±SD) | 1.50±0.56 | |
| Outer diameter of ipsilateral vertebral artery (mean±SD) | 3.14±0.25 | |
| Remodelling index (mean±SD) | 0.53±0.16 | |
| Neuropsychological assessment* | ||
| MoCA (mean±SD) | 21.82±4.21 | |
| IADL (mean±SD) | 14.48±1.89 | |
| HAMD-17 (mean±SD) | 4.37±3.80 | |
| Mutation† | ||
| GG | 90/116 | 77.6 |
| GA | 26/116 | 22.4 |
*The neuropsychological assessment was performed in 116 of the 139 patients.
†RNF213 p.R4810K (rs112735431) gene mutation analysis was performed in 116 of the 139 patients.
ACA, anterior cerebral artery; 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; MMD, moyamoya disease; MoCA, Montreal Cognitive Assessment; mRS, Modified Rankin Scale; PCA, posterior cerebral artery.