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Article

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.

BMC neurology - 26 Feb 2024

Liu Weili, Zhang Jie, Li Jian, Jia Shuai, Wang Yanqiang, Geng Jianhong, Wang Yaozhen

Abstract excerpt

BACKGROUND: CADASIL(Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)is an inherited small vessel disease caused by mutations in NOTCH3 gene. Although NOTCH3 has numerous hotspots of gene mutations, mutations in exons 9 are rare. The p.C484T gene mutation type associated with it has not been reported in any relevant cases yet. Furthermore, CADASIL patients rarely present...

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Identifiers

PMID: 38408980
DOI: 10.1186/s12883-024-03573-8
PMCID: PMC10895806

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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