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Article

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Oct 2018

Hung Ling Yin, Ling Tsz Ki, Lau Nike Kwai Cheung, Cheung Wing Lan, Chong Yeow Kuan, Sheng Bun, Kwok King Ming, Mak Chloe Miu

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset hereditary stroke syndrome characterized by recurrent stroke and progressive cognitive impairment caused by NOTCH3 mutations. We report here the clinical and molecular findings of three unrelated Hong Kong Chinese families with CADASIL syndrome. Sanger sequencing of genomic DNA revealed a novel...

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Source

Identifiers

PMID: 29980472
DOI: 10.1016/j.jocn.2018.06.050

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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