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

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

Abstract 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 mut...

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Bibliographic Details
Main Authors: Weili Liu, Jie Zhang, Jian Li, Shuai Jia, Yanqiang Wang, Jianhong Geng, Yaozhen Wang
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Neurology
Subjects:
CADASIL
Acute bilateral subcortical infarcts
NOTCH3 gene
Novel mutation
Online Access:https://doi.org/10.1186/s12883-024-03573-8

Internet

https://doi.org/10.1186/s12883-024-03573-8

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