Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease.

doi:10.3171/2024.6.JNS24202

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Article

Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease.

Journal of neurosurgery - 1 Feb 2025

Torazawa Seiei, Miyawaki Satoru, Imai Hideaki, Hongo Hiroki, Ishigami Daiichiro, Shimizu Masahiro, Sakai Yu, Ogawa Shotaro, Kiyofuji Satoshi, Koizumi Satoshi, Komura Daisuke, Katoh Hiroto, Ono Hideaki, Nakatomi Hirofumi, Ishikawa Shumpei, Saito Nobuhito

Abstract excerpt

OBJECTIVE: The genetic basis underlying the pathophysiology of quasi-moyamoya disease (qMMD) is unclear. Herein, the authors aimed to comprehensively analyze genetic variants in qMMD and investigate their association with clinical phenotypes, focusing on RNF213 and other moyamoya angiopathy (MMA)-related genes. METHODS: The authors evaluated 14 consecutive cases of qMMD, whose underlying conditions included...

Read the complete abstract on PubMed

Topics

Humans
Ubiquitin-Protein Ligases
Moyamoya Disease
Female
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Adenosine Triphosphatases

Disease Progression

Middle Aged

Adolescent

Young Adult

Constriction, Pathologic

Child

Genetic Variation

Source

Open in PubMed

Identifiers

PMID: 39270321
DOI: 10.3171/2024.6.JNS24202

Genes

RNF213
MMD

Variants

Provenance

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