Shunsuke Nomura, Hiroyuki Akagawa, Koji Yamaguchi, Tatsuya Ishikawa, Akitsugu Kawashima, Hidetoshi Kasuya, Maki Mukawa, Tadashi Nariai, Taketoshi Maehara, Yoshikazu Okada, Takakazu Kawamata
BACKGROUND: Moyamoya syndrome (MMS), distinguished from definite moyamoya disease (MMD), is characterized by moyamoya vasculopathy thought to develop secondary to underlying conditions (e.g., hyperthyroidism). Recent studies have shown that a proportion of East Asian (EAS) patients with MMS possess the p.R4810K variant of RNF213 (rs112735431), the foremost susceptibility variant among EAS patients with MMD. We evaluated the association between hyperthyroidism-associated MMS (hMMS) and sequence variants in RNF213...
July 2019: World Neurosurgery