Arteriopatia Cerebral Autossómica Dominante com Enfartes Subcorticais e Leucoencefalopatia (CADASIL) Associada a Atrofia Cerebelosa de Múltiplos Sistemas (MSA)

Abstract

CADASIL, an autosomal dominant genetic disease linked to NOTCH3 gene mutations, manifests itself with small vessel brain infarctions1,2. AMS is a group of neurodegenerative syndromes characterized by autonomic dysfunctions, cerebellar abnormalities, parkinsonism, and corticospinal degeneration3,4. 

A 66-year-old woman, who had episodes of altered balance and gait, after cerebral ischemia, maintaining episodes of imbalance and lipothymia; ataxic gait, dysmetria and extrapyramidal signs. A report in the family of ischemic brain disease. Genetic study identified mutation in the NOTCH3 gene, in MRI, signs of periventricular microangiopathy compatible with CADASIL and signal alteration in the pons, in the cross aspect, are identified.