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Diagnostic challenges in CADASIL

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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common monogenic form of stroke. It results from mutations in the NOTCH3 gene, which encodes a transmem-brane… Click to show full abstract

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common monogenic form of stroke. It results from mutations in the NOTCH3 gene, which encodes a transmem-brane receptor. Mutations are highly stereotyped and occur in the extracellular portion of the protein

Keywords: challenges cadasil; diagnostic challenges

Journal Title: Arquivos de Neuro-Psiquiatria
Year Published: 2023

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