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Article

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

International journal of molecular sciences - 13 Aug 2024

Cao Yuan, Zhang Ding-Ding, Han Fei, Jiang Nan, Yao Ming, Zhu Yi-Cheng

Abstract excerpt

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by NOTCH3 mutations affecting the number of cysteines. The pathogenic role of cysteine-sparing NOTCH3 mutations with typical clinical CADASIL syndrome is still debated. This review aimed to characterize NOTCH3 cysteine-sparing mutations in patients with clinical suspicion of CADASIL. Articles on NOTCH3...

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CADASIL
Cognitive Dysfunction
Cysteine
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Notch3

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PMID: 39201482
DOI: 10.3390/ijms25168796
PMCID: PMC11354472

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