RNF213 p.R4810K variant in patients with early-onset stroke and intracranial arterial stenosis


  • The RNF213 p.R4810K variant was found in almost a quarter of Japanese early-onset stroke patients with intracranial arterial stenosis who developed a non-cardioembolic stroke or transient ischemic attack.

  • The variant was most frequently observed in patients with stenosis in the M1 segment of the middle cerebral artery or the A1 segment of the anterior cerebral artery.

Why this matters ?

  • These data, along with future studies examining the RNF213 gene, may provide further insights into pathogenetic mechanisms of early-onset stroke, and thus help identify at-risk patients.