Abstract

NERI, Vanderson Carvalho et al. Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Associated with Multiple System Cerebellar Atrophy (MSA). Acta Radiol Port [online]. 2021, vol.33, n.1, pp.35-36.  Epub July 16, 2021. ISSN 2183-1351.  https://doi.org/10.25748/arp.21563.

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

A 66-year-old woman presented with episodes of altered balance and gait after cerebral ischemia, maintaining episodes of imbalance and lipothymia; ataxic gait, dysmetria and extrapyramidal signs. Prior family history was positive for 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, were identified.

Keywords : CADASIL; AMS; Images..

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