Impact of the RNF213 p.R4810K Variant on Endovascular Therapy for Large-Vessel Occlusion Stroke

We investigated the impact of the ring finger protein 213 p.R4810K variant, a founder variant for moyamoya disease in East Asians, on endovascular therapy outcomes in patients with acute anterior-circulation large-vessel occlusion stroke in comparison with noncarriers.

Of the consecutive patients with ischemic stroke admitted to our institute from 2011 to 2021, patients who underwent endovascular therapy for acute occlusion of the intracranial internal carotid artery or M1 segment of the middle cerebral artery were included. Outcomes were instant reocclusion, final modified Thrombolysis in Cerebral Infarction reperfusion ≥2b, and early reocclusion. Instant reocclusion was defined as the occurrence of reocclusion during the procedure, and early reocclusion was defined as reocclusion detected on magnetic resonance angiography within 2 weeks after the confirmation of successful reperfusion.

Of the 277 patients analyzed (128 women; median age, 76 years), 10 patients (3.6%) carried the ring finger protein 213 p.R4810K variant. Variant carriers were younger (P=0.01) and more frequently had intracranial atherosclerotic disease-related large-vessel occlusion as a cause of acute large-vessel occlusion (P<0.001) compared with noncarriers. Variant carriers showed a higher rate of instant reocclusion (70.0% versus 5.6%; P<0.001), but there were no significant intergroup differences in the final modified Thrombolysis in Cerebral Infarction ≥2b reperfusion rate between carriers and noncarriers (100.0% versus 81.6%, respectively; P=0.22). Early reocclusion was more frequent in variant carriers compared with noncarriers (60.0% versus 0.4%; P<0.001).

Instant and early reocclusions were more frequent in variant carriers who underwent endovascular therapy for acute anterior-circulation large-vessel occlusion compared with noncarriers.