SQSTM1 gene as a potential genetic modifier of CADASIL phenotype.

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease and is caused by mutations in the NOTCH3 gene. Interestingly, CADASIL patients present a large phenotypic variability even harboring the same pathogenic variant. We describe two CADASIL siblings with a particularly aggressive clinical phenotype...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to CADASIL
• Share to Magnetic Resonance Imaging
• Share to Mutation