• Yohei Mineharu, Yasushi Takagi, Akio Koizumi, Takaaki Morimoto, Takeshi Funaki, Tomohito Hishikawa, Yoshio Araki, Hitoshi Hasegawa, Jun C Takahashi, Satoshi Kuroda, Kiyohiro Houkin, and Susumu Miyamoto.
• 1Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto.
• J. Neurosurg. 2022 Apr 1; 136 (4): 100510141005-1014.

ObjectiveAlthough many studies have analyzed risk factors for contralateral progression in unilateral moyamoya disease, they have not been fully elucidated. The aim of this study was to examine whether genetic factors as well as nongenetic factors are involved in the contralateral progression.MethodsThe authors performed a multicenter cohort study in which 93 cases with unilateral moyamoya disease were retrospectively reviewed. The demographic features, RNF213 R4810K mutation, lifestyle factors such as smoking and drinking, past medical history, and angiographic findings were analyzed. A Cox proportional hazards model was used to find risk factors for contralateral progression.ResultsContralateral progression was observed in 24.7% of cases during a mean follow-up period of 72.2 months. Clinical characteristics were not significantly different between 67 patients with the R4810K mutation and those without it. Cox regression analysis showed that the R4810K mutation (hazard ratio [HR] 4.64, p = 0.044), childhood onset (HR 7.21, p < 0.001), male sex (HR 2.85, p = 0.023), and daily alcohol drinking (HR 4.25, p = 0.034) were independent risk factors for contralateral progression.ConclusionsThese results indicate that both genetic and nongenetic factors are associated with contralateral progression of unilateral moyamoya disease. The findings would serve to help us better understand the pathophysiology of moyamoya disease and to manage patients more appropriately.

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