Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

Abstract excerpt

Mutations in the NOTCH3 gene (NOTCH3) are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult-onset hereditary angiopathy leading to ischemic episodes, vascular dementia and other neurologic deficits. All mutations of NOTCH3 described so far are strictly stereotyped, leading to the gain or loss of a cysteine residue in a given epidermal...

Topics

Join the communities discussing this publication.

• Magnetic Resonance Imaging
• CADASIL
• EGF gene
• NOTCH3 gene
• Korea
• Mutation