Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi–moyamoya disease
While the clinical implications of p.Arg4810Lys in cases with qMMD were not identified, the study findings suggest a potential association between RNF213 RVs and the significant progression of intracranial artery stenosis. Genetic analysis should not focus solely on p.Arg4810Lys but instead consider a comprehensive analysis of RNF213 for more accurate clinical prognostication of qMMD.
Authors
- Masahiro Shimizu (ORCID: https://orcid.org/0000-0001-6249-1018)
- Satoru Miyawaki (ORCID: https://orcid.org/0000-0001-6369-3391)
- Hideaki Ono (ORCID: https://orcid.org/0000-0001-9615-0553)
- Daiichiro Ishigami (ORCID: https://orcid.org/0000-0003-4437-5421)
- Daisuke Komura (ORCID: https://orcid.org/0000-0002-0038-728X)
- Satoshi Kiyofuji (ORCID: https://orcid.org/0000-0001-8780-5773)
- Yu Sakai (ORCID: https://orcid.org/0000-0003-0789-8995)
- Hiroto Katoh (ORCID: https://orcid.org/0000-0001-9440-728X)
- Seiei Torazawa (ORCID: https://orcid.org/0000-0001-8447-8287)
- Hirofumi Nakatomi (ORCID: https://orcid.org/0000-0001-5964-575X)
- Satoshi Koizumi (ORCID: https://orcid.org/0000-0001-6506-8055)
- Shotaro Ogawa (ORCID: https://orcid.org/0000-0002-2919-2224)
- Hideaki Imai
- Shumpei Ishikawa (ORCID: https://orcid.org/0000-0002-3309-2330)
- Hiroki Hongo (ORCID: https://orcid.org/0009-0001-8594-091X)
- Nobuhito Saito
Institutions
- Kyorin University (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Journal of neurosurgery
- Published
- 2024-09-01
- DOI
- https://doi.org/10.3171/2024.6.jns24202
- Citations
- 3
- Primary Topic
- Moyamoya disease diagnosis and treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.41