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A Chinese CADASIL family with p.R578C mutation at exon 11 of the NOTCH3 gene.

Clinical neurology and neurosurgery - 1 Sept 2021

Wu XuLing, Zhang AnNi, Li Ya, Lei XiaoYang, Guo ShiPeng, Tian Tian, Gong HuiLan, He Dian

Abstract excerpt

OBJECTIVE: To analyze one clinical case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL), and to perform analysis of the related gene mutation for the proband and her family. METHODS: Analysis of clinical data from the patient diagnosed with CADASIL, including clinical manifestations, blood test results and brain imaging results, followed by high-throughput...

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PMID: 34352628
DOI: 10.1016/j.clineuro.2021.106833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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