Table 2.
Clinical manifestations at diagnosis and angiographic features of each genetic variation in RNF213 in 253 hemispheres
| All hemispheres (n = 253) |
GA (n = 179) | GG (n = 74) | GG/p.Ala4399Thr (n = 17) | GG/RV (n = 19) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n | % | n | % | n | % | P value vs. GA | n | % | P value vs. GA | n | % | P value vs. GA | |
| Symptoms at diagnosis | |||||||||||||
| Asymptomatic | 124 | 49.0 | 83 | 46.4 | 41 | 55.4 | 0.191 | 11 | 64.7 | 0.148 | 9 | 47.4 | 0.934 |
| Ischemia | 103 | 40.7 | 79 | 44.1 | 24 | 32.4 | 0.085 | 1 | 5.9 | 0.001 | 8 | 42.1 | 0.865 |
| Hemorrhage | 26 | 10.3 | 17 | 9.5 | 9 | 12.2 | 0.525 | 5 | 29.4 | 0.028 | 2 | 10.5 | 0.568 |
| Angiographical features | |||||||||||||
| Lenticulostriate PA | 58 | 22.9 | 52 | 29.1 | 6 | 8.1 | <0.001 | 1 | 5.9 | 0.029 | 2 | 10.5 | 0.085 |
| Choroidal PA | 88 | 34.8 | 64 | 35.8 | 24 | 32.4 | 0.614 | 6 | 35.3 | 0.970 | 6 | 31.6 | 0.717 |
| Thalamic PA | 24 | 9.5 | 22 | 12.3 | 2 | 2.7 | 0.018 | 1 | 5.9 | 0.379 | 0 | 0.0 | 0.095 |
| PCA involvement | 34 | 13.4 | 28 | 15.6 | 6 | 8.1 | 0.110 | 0 | 0.0 | 0.064 | 3 | 15.8 | 0.600 |
| Suzuki grade, median (IQR) | 3 (3–3) | (3–3) | 3 (3–3) | 0.474 | 3 (3–3) | 0.323 | 3 (3–3) | 0.561 | |||||
GA, heterozygote of p.Arg4810Lys; GG, wild type of p.Arg4810Lys; PA, periventricular anastomosis, PCA; posterior cerebral artery; RV, rare variant
Values in bold indicate p < 0.05