CADASIL in the Differential Diagnosis of Atypical Parkinsonism. Case Report

Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in the NOTCH3 gene. The clinical spectrum includes migraine, transient ischemic attacks and/or recurrent strokes, and cognitive impairment. The presence of signs and symptoms of Parkinsonism are poorly described in the phenotype of this disease. This case report was approved by the Ethics Committee of Universidade Metropolitana de Santos. Case Report: The present case refers to a 59-year-old female patient presenting with recurrent transient ischemic attacks, chronic migraine, depression and bilateral akinetic-rigid parkinsonism. Brain MRI showed diffuse and confluent lesions. The genetic study showed a de novo heterozygous pathogenic variant in the NOTCH3 gene. Symptomatic treatment with multiprofessional rehabilitation was instituted with partial improvement of symptoms.