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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited

12 May 2020

Abstract excerpt

Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient. Methods Here, we describe the phenotype of a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) harboring a novel mutation. We also performed an...

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PMID: 32582863
DOI: 10.1212/nxg.0000000000000434

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