Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease : possible involvement of intrinsic vascular vulnerability

Uchino, Haruto; Ito, Masaki; Tokairin, Kikutaro; Tatezawa, Ryota; Sugiyama, Taku; Kazumata, Ken; Fujimura, Miki

Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease : possible involvement of intrinsic vascular vulnerability

Uchino, Haruto; Ito, Masaki; Tokairin, Kikutaro et al.

Neurosurgical review, 2023, 46(1), 119

Permalink : https://hdl.handle.net/2115/92470

このアイテムのアクセス数:183件（2026-01-14 19:33 集計）

閲覧可能ファイル

ファイル	フォーマット	サイズ	閲覧回数	説明
Neurosurg Rev 46(1) 119	pdf	2.10 MB	107

論文情報

ファイル出力 EndNote Basic出力 Mendeley出力

アクセス権	open access
URI	https://hdl.handle.net/2115/92470
タイトル	Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease : possible involvement of intrinsic vascular vulnerability
著者	Uchino, Haruto ; Ito, Masaki ; Tokairin, Kikutaro ; Tatezawa, Ryota ; Sugiyama, Taku ; Kazumata, Ken ; Fujimura, Miki
e-Rad_Researcher 40775144 著者名 Uchino, Haruto
著者名 Ito, Masaki
著者名 Tokairin, Kikutaro
著者名 Tatezawa, Ryota
著者名 Sugiyama, Taku
著者名 Kazumata, Ken
e-Rad_Researcher 00361098 著者名 Fujimura, Miki
言語	英語
キーワード	Cortical hyperintensity
	FLAIR
	Hyperperfusion
	Moyamoya disease
	RNF213
発行日	2023-05-11
出版者	Springer
収録物名	Neurosurgical review
巻(号)	46(1)
ページ	119
抄録	A cortical hyperintensity on fluid-attenuated inversion recovery images (FLAIR cortical hyperintensity (FCH)) is an abnormal finding after revascularization surgery for moyamoya disease. This study aimed to investigate the pathophysiology of FCH through genetic analyses of RNF213 p.R4810K polymorphism and perioperative hemodynamic studies using single-photon emission computed tomography. We studied 96 hemispheres in 65 adults and 47 hemispheres in 27 children, who underwent combined direct and indirect revascularization. Early or late FCH was defined when it was observed on postoperative days 0-2 and 6-9, respectively. FCH scores (range: 0-6) were evaluated according to the extent of FCH in the operated hemisphere. FCHs were significantly more prevalent in adult patients than pediatric patients (early: 94% vs. 78%; late: 97% vs. 59%). In pediatric patients, FCH scores were significantly improved from the early to late phase regardless of the RNF213 genotype (mutant median [IQR]: 2 [1-5] vs. 1 [0-2]; wild-type median: 4 [0.5-6] vs. 0.5 [0-1.75]). In adults, FCH scores were significantly improved in patients with the wild-type RNF213 allele (median: 4 [2-5.25] vs. 2 [2, 3]); however, they showed no significant improvement in patients with the RNF213 mutation. FCH scores were significantly higher in patients with symptomatic cerebral hyperperfusion than those without it (early median: 5 [4, 5] vs. 4 [2-5]; late median: 4 [3-5] vs. 3 [2-4]). In conclusion, the RNF213 p.R4810K polymorphism was associated with prolonged FCH, and extensive FCH was associated with symptomatic cerebral hyperperfusion in adult patients with moyamoya disease.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://dx.doi.org/10.1007/s10143-023-02030-3
PISSN	0344-5607
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1007/s10143-023-02030-3