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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
| Title: | 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 |
| Authors: | Uchino, Haruto Browse this author →KAKEN DB | | Ito, Masaki Browse this author | | Tokairin, Kikutaro Browse this author | | Tatezawa, Ryota Browse this author | | Sugiyama, Taku Browse this author | | Kazumata, Ken Browse this author | | Fujimura, Miki Browse this author →KAKEN DB |
| Keywords: | Cortical hyperintensity | | FLAIR | | Hyperperfusion | | Moyamoya disease | | RNF213 |
| Issue Date: | 11-May-2023 |
| Publisher: | Springer |
| Journal Title: | Neurosurgical review |
| Volume: | 46 |
| Issue: | 1 |
| Start Page: | 119 |
| Publisher DOI: | 10.1007/s10143-023-02030-3 |
| Abstract: | 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. |
| Rights: | 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 |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/92470 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 内野 晴登
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