Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion

• Published in: Stroke (1970) Vol. 43; no. 12; pp. 3371 - 3374
• Main Authors: Miyawaki, Satoru, Imai, Hideaki, Takayanagi, Shunsaku, Mukasa, Akitake, Nakatomi, Hirofumi, Saito, Nobuhito
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01.12.2012
• Subjects: Adenosine Triphosphatases; Adult; Aged; Asian Continental Ancestry Group - genetics; Asian Continental Ancestry Group - statistics & numerical data; Biological and medical sciences; Case-Control Studies; Cerebral Arterial Diseases - classification; Cerebral Arterial Diseases - epidemiology; Cerebral Arterial Diseases - genetics; Female; Genetic Predisposition to Disease - epidemiology; Genetic Predisposition to Disease - genetics; Genetic Variation - genetics; Humans; Japan - epidemiology; Male; Medical sciences; Middle Aged; Moyamoya Disease - epidemiology; Moyamoya Disease - genetics; Neurology; Neurosurgery; Risk Factors; Skull, brain, vascular surgery; Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases; Ubiquitin-Protein Ligases - genetics; Vascular diseases and vascular malformations of the nervous system; Intracranial; Stroke; Nishimoto Kudo disease; Nervous system diseases; Moya Moya disease; Cardiovascular disease; moyamoya; Cerebral disorder; Genetic disease; Vascular disease; Vasculitis; Intracranial artery stenosis; genetics; Systemic disease; Central nervous system disease; intracranial stenosis; Cerebrovascular disease; Takayashu arteritis

The c.14576G>A variant in ring finger protein 213 (RNF213) was recently identified as a susceptibility gene variant for moyamoya disease (MMD). The occurrence of c.14576G>A variant was evaluated in patients with intracranial major artery stenosis/occlusion (ICASO) without signs of MMD (non-MMD...