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Isolation and Cannulation of Cerebral Parenchymal Arterioles
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[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]

Hugues Chabriat1

  • 1Service de neurologie, Pôle neurosciences, Hôpital Lariboisière ; Centre de référence pour les maladies rares des vaisseaux du cerveau et de l'œil (Cervco) ; DHU-neurovasculaire et Inserm U740, Université Denis Diderot, Paris, France.

Geriatrie Et Psychologie Neuropsychiatrie Du Vieillissement
|June 19, 2014
PubMed

Insights

CADASIL is a genetic small vessel brain disease caused by NOTCH3 gene mutations, leading to protein buildup in blood vessels. This inherited condition causes migraines, strokes, mood issues, and cognitive decline, progressing to severe disability.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Context:

  • Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease.
  • It stems from mutations in the NOTCH3 gene, affecting smooth muscle cells and pericytes in brain arterioles and capillaries.
  • This genetic defect leads to abnormal protein accumulation within vascular walls.

Purpose:

  • To describe the genetic basis, clinical manifestations, and diagnostic criteria of CADASIL.
  • To elucidate the pathological mechanisms involving NOTCH3 protein aggregation and its impact on cerebral vasculature.
  • To highlight the progressive nature of CADASIL, from early neurological symptoms to severe disability.

Summary:

  • CADASIL is caused by NOTCH3 gene mutations, resulting in protein accumulation and vascular wall abnormalities in the brain.
  • Clinical features include migraine with aura, ischemic stroke, mood disorders, and progressive cognitive impairment, often starting in mid-adulthood.
  • Neuroimaging reveals white matter lesions, infarcts, and microbleeds, with severity correlating to infarct burden and atrophy.

Impact:

  • Establishes the link between NOTCH3 mutations and the pathogenesis of CADASIL.
  • Provides a comprehensive overview of the clinical and radiological spectrum of the disease.
  • Confirms genetic testing and skin biopsy as key diagnostic tools for CADASIL.

Keywords:
CADASILNOTCH3arteriolopathycerebral smallvessel diseaseleukoencephalopathy

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