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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

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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 [1,2,3,4,5] 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 [2,3,4,5]; late median: 4 [3,4,5] vs. 3 [2,3,4]). 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.

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Funding

This study was partially supported by the Japanese Intractable Diseases Research Foundation grant number 2021B01 (H.U.) and the Japanese Society for the Promotion of Science KAKENHI grant number 19H03765 (M.I.) and 20K09362 (M.F.).

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Authors and Affiliations

  1. Department of Neurosurgery, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan

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

Authors
  1. Haruto Uchino
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  2. Masaki Ito
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  3. Kikutaro Tokairin
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  4. Ryota Tatezawa
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  5. Taku Sugiyama
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  6. Ken Kazumata
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  7. Miki Fujimura
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Contributions

Uchino and Fujimura: conception and study design. Uchino, Tokairin, Tatezawa, Sugiyama, and Ito: acquisition of data. Uchino, Ito, and Kazumata: analysis and interpretation. Uchino: drafting. Uchino and Fujimura: critical revision of the article. Fujimura: study supervision.

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Correspondence to Haruto Uchino.

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The present study conforms to the guidelines issued in the Declaration of Helsinki. This study was approved by the Institutional Ethics Committees (approval number 14–053).

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Uchino, H., Ito, M., Tokairin, K. et al. 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. Neurosurg Rev 46, 119 (2023). https://doi.org/10.1007/s10143-023-02030-3

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