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Article

Exploring the link between Alport syndrome and multiple intracranial artery stenoses: A case report of COL4A5 mutation.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Nov 2024

Egashira Shuhei, Shiozawa Masayuki, Arisato Tetsuya, Morita Yoshiaki, Nozu Kandai, Yoshihara Fumiki, Koga Masatoshi

Abstract excerpt

BACKGROUND: Alport syndrome is a genetic disorder caused by mutations in the COL4A5 gene, which encodes type IV collagen α5 chain, leading to chronic nephritis, hearing loss, and ocular abnormalities. Recent reports suggest this genetic mutation may also increase the risk of cerebral aneurysms and fibromuscular dysplasia, indicating a potential association with vascular vulnerability. CASE PRESENTATION: A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38880363
DOI: 10.1016/j.jstrokecerebrovasdis.2024.107816

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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