Hemorrhagic Onset Intracranial Artery Dissection of Middle Cerebral Artery Followed by Progressive Arterial Stenosis with Genetic Variant RNF213 p.Arg4810Lys (rs112735431)

• Published in: World neurosurgery 2020-09, Vol.141, p.192-195
• Main Authors: Shinya, Yuki, Miyawaki, Satoru, Nakatomi, Hirofumi, Shin, Masahiro, Teraoka, Akira, Saito, Nobuhito
• Format: Article
• Language: English
• Subjects: Adenosine Triphosphatases - genetics; Aneurysm, Dissecting - genetics; Aneurysm, Dissecting - pathology; Female; Genetic Predisposition to Disease; Humans; Intracranial Aneurysm - genetics; Intracranial Aneurysm - pathology; Intracranial arterial dissection; Intracranial artery stenosis; Middle Aged; Moyamoya Disease - genetics; Moyamoya Disease - pathology; Polymorphism, Single Nucleotide; RNF213 p.Arg4810Lys; Subarachnoid Hemorrhage - genetics; Subarachnoid Hemorrhage - pathology; Ubiquitin-Protein Ligases - genetics
• ISSN: 1878-8750; 1878-8769
• DOI: 10.1016/j.wneu.2020.04.241

Intracranial 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. Herein, 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. This 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.