• Yuki Shinya, Satoru Miyawaki, Hirofumi Nakatomi, Masahiro Shin, Akira Teraoka, and Nobuhito Saito.
• Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan; Department of Neurosurgery, Teraoka Memorial Hospital, Fukuyama, Hiroshima, Japan.
• World Neurosurg. 2020 Sep 1; 141: 192-195.

BackgroundIntracranial arterial dissection (IAD) is known to exhibit various patterns of arterial imaging features such as stenosis and dilation; however, the genetic background of IAD has not been elucidated so far. RNF213 was recently identified as a susceptibility gene for moyamoya disease (MMD) and intracranial artery stenosis (ICAS). More recently, RNF213 p.Arg4810Lys also has been shown to be associated with various systemic vascular diseases. RNF213 p.Arg4810Lys is beginning to attract attention as a genetic factor that causes systemic vascular disease.Case DescriptionHerein, we report a rare case of de novo progression of the intracranial vascular lesion with the RNF213 p.Arg4810Lys variant, which first presented IAD of the middle cerebral artery (MCA) with subarachnoid hemorrhage, second progressed into ICAS, and finally evolved into MMD-like angiogenesis over 6 years.ConclusionsThis case suggests that IAD of the MCA could be associated with RNF213 p.Arg4810Lys variant. This genetic variant could also have a key role in the overlap among the different disease states. A large-scale genetic analysis study of the IADs of the anterior circulation is needed. To qualify the significance of RNF213 p.Arg4810Lys variant as a stroke risk allele, accumulation of various cases of cerebrovascular lesions would be essential.Copyright © 2020 Elsevier Inc. All rights reserved.

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