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Article

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.

CNS neuroscience & therapeutics - 1 Nov 2022

Ni Wang, Zhang Yi, Zhang Liang, Xie Juan-Juan, Li Hong-Fu, Wu Zhi-Ying

Abstract excerpt

INTRODUCTION: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a relatively common cerebral small vessel disease. NOTCH3 has been identified as the causative gene of CADASIL. Clinical variability and genetic heterogeneity were observed in CADASIL patients and need to be further clarified. AIMS: The aim of the study was to clarify genetic spectrum of NOTCH3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35822697
DOI: 10.1111/cns.13917
PMCID: PMC9532899

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