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Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients

Renata Nogueira1, Christian Marques Couto1, Pérola de Oliveira2

  • 1Rede Sarah de Hospitais de Reabilitação, Rio de Janeiro RJ, Brazil.

Arquivos De Neuro-Psiquiatria
|May 8, 2023
PubMed

Insights

This study details Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Brazil, revealing common symptoms like stroke and cognitive decline. Findings align with European data but show unique patterns in microbleeds and hemorrhagic strokes.

Area of Science:

  • Neurology
  • Genetics
  • Epidemiology

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a prevalent genetic cause of ischemic stroke.
  • Clinical and genetic data for CADASIL in Brazil are limited, despite the population's genetic diversity.
  • Understanding Brazilian CADASIL profiles is crucial for diagnosis and management.

Observation:

  • A case series of 26 genetically confirmed CADASIL patients in Brazil (2002-2019).
  • Data collected from 6 rehabilitation hospitals across Brazil.
  • Focus on clinical and epidemiological features of the disease.

Findings:

  • The most common mutations were in exons 4 and 19, with a mean age of onset at 45 years.
  • Ischemic stroke, cognitive impairment, and psychiatric issues were frequent symptoms.
  • White matter hyperintensities, lacunar infarcts, and microbleeds were prevalent imaging findings.

Implications:

  • This is the most extensive Brazilian CADASIL patient series published to date.
  • Brazilian CADASIL data largely mirrors European cohorts, with notable differences in microbleed and hemorrhagic stroke rates.
  • Highlights the need for further research into Brazil's unique genetic and clinical landscape for CADASIL.
Abstract

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