Atypical clinical cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Abstract

C Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary CNS disease with autosomal dominant inheritance caused by NOTCH3 gene mutations. In classic cases, CADASIL manifests with headaches, repeated cerebrovascular disorders, and progressive cognitive decline. Cerebral magnetic resonance imaging plays an important diagnostic role as it reveals multiple lacunar infarcts in the basal ganglia, brainstem, and cerebellum, as well as focal white matter lesions and diffuse leukoaraiosis changes. CADASIL can sometimes have other symptoms and be disguised as phenotypes atypical of this disease. We report two genetically confirmed cases of CADASIL with atypical clinical presentation that manifested with predominantly cerebellar or essential tremor combined with cognitive and affective disorders. The main principles of diagnosis of this disease characterized by clinical polymorphism are discussed.

Keywords

• cadasil
• the notch3 gene
• clinical manifestations
• atypical phenotypes
• neuroimaging
• diagnosis