Table 1 Demographical characteristics of patients with Moyamoya disease
Characteristics | Number of patients (%) | |||
|---|---|---|---|---|
Total patients (n = 126) | Cohort 1 (n = 74) | Cohort 2 (n = 52) | Expanded validation patients (n = 268) | |
Sex (female/male) | 64 (50.8)/62 (49.2) | 43 (58.1)/31 (41.9) | 21 (40.4)/31 (59.6) | 116 (43.3)/152 (56.7) |
Age at onset (year) | ||||
Median | 8.5 | 25.5 | 5.5 | 7.0 |
(IQR) | (5.0–30.3) | (6.8–38.3) | (4.0–7.8) | (4.0–8.0) |
<18 | 81 (64.3) | 32 (43.2) | 49 (94.2) | 268 (100.0) |
Initial symptoms | ||||
TIA | 68 (54.0) | 34 (45.9) | 34 (65.4) | 183 (68.3) |
CI | 21 (16.7) | 13 (17.6) | 8 (15.4) | 39 (14.6) |
CH | 7 (5.6) | 6 (8.1) | 1 (1.9) | 7 (2.6) |
Headache | 17 (13.5) | 11 (14.9) | 6 (11.5) | 17 (6.3) |
Complications | ||||
Hypertension | 23 (18.3) | 20 (27.0) | 3 (5.8) | 6 (2.2) |
Diabetes | 7 (5.6) | 6 (8.1) | 1 (1.9) | 1 (0.27) |
Hyperlipidemia | 24 (19.0) | 23 (31.1) | 1 (1.9) | 15 (5.6) |
MMD FH | 2 (1.6) | 0 | 2 (3.8) | 5 (1.9) |
Bilateral | 105 (83.3) | 65 (87.8) | 40 (76.9) | 264 (98.5) |
PCA | 55 (43.7) | 30 (40.5) | 25 (48.1) | 95 (35.4) |
Suzuki angiographic stage | ||||
Early stage (1–2) | 3 (2.4) | 0 | 3 (5.8) | 28 (10.4) |
Intermediate stage (3–4) | 60 (47.6) | 37 (50.0) | 23 (44.2) | 158 (59.0) |
Advanced stage (5–6) | 60 (47.6) | 36 (48.6) | 24 (46.2) | 81 (30.2) |
RNF213 p.R4810K | ||||
GG | 86 (68.3) | 56 (75.7) | 30 (57.7) | 268 (100.0) |
GA | 32 (25.4) | 18 (24.3) | 14 (26.9) | 0 |
AA | 8 (6.3) | 0 | 8 (15.4) | 0 |
