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

• Published in: Neurosurgical review Vol. 46; no. 1; p. 119
• Main Authors: Uchino, Haruto, Ito, Masaki, Tokairin, Kikutaro, Tatezawa, Ryota, Sugiyama, Taku, Kazumata, Ken, Fujimura, Miki
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 11-05-2023
• Subjects: Adenosine Triphosphatases - genetics; Adult; Cerebral Revascularization; Child; Genetic Predisposition to Disease; Genotype; Humans; Medicine; Medicine & Public Health; Moyamoya Disease - diagnostic imaging; Moyamoya Disease - genetics; Moyamoya Disease - surgery; Mutation; Neurosurgery; Polymorphism, Genetic; Ubiquitin-Protein Ligases - genetics; Cortical hyperintensity; FLAIR; Moyamoya disease; RNF213; Hyperperfusion
• ISSN: 1437-2320; 1437-2320
• DOI: 10.1007/s10143-023-02030-3

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.