J Genet Med.  2022 Jun;19(1):38-41. 10.5734/JGM.2022.19.1.38.

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

• Choi W
• Hwang YH
• Lee JM

• KMID: 2531194
• DOI: http://doi.org/10.5734/JGM.2022.19.1.38

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.

Keyword

Leukoencephalopathy; Ischemic stroke; CADASIL