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Article

A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Aug 2021

Liu Yuan, Huang Shicun, Yu Liqiang, Li Tan, Diao Shanshan, Chen Zhiguo, Zhou Guoqing, Sheng Xihua, Xu Yuan, Fang Qi

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is caused by the Notch3 gene mutation, has its unique clinical and imaging characteristics. Here we present a Chinese family with a novel mutation on exon 10 of Notch3 gene. METHODS: Clinical and MRI data of the three patients in the family during the 7-year follow-up were collected. The CADASIL...

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Identifiers

PMID: 34119749
DOI: 10.1016/j.jstrokecerebrovasdis.2021.105674

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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