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Article

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.

International journal of molecular sciences - 29 Sept 2022

Kim Yerim, Bae Jong Seok, Lee Ju-Young, Song Hong Ki, Lee Ju-Hun, Lee Minwoo, Kim Chulho, Lee Sang-Hwa

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small-vessel disease caused by mutations in the NOTCH3 gene. Classical pathogenic mechanisms are associated with cysteine gain or loss, but recent studies suggest that cysteine-sparing mutations might have a potential role as a pathogen. In comparison with CADASIL patients in Western...

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Identifiers

PMID: 36232798
DOI: 10.3390/ijms231911506
PMCID: PMC9569740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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