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http://dx.doi.org/10.5734/JGM.2022.19.1.38

A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant  

Choi, WooChan (Department of Neurology, Kyungpook National University Hospital)
Hwang, Yang-Ha (Department of Neurology, Kyungpook National University Hospital)
Lee, Jong-Mok (Department of Neurology, Kyungpook National University Hospital)
Publication Information
Journal of Genetic Medicine / v.19, no.1, 2022 , pp. 38-41 More about this Journal
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.
Keywords
Leukoencephalopathy; Ischemic stroke; CADASIL;
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