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Related Experiment Video

Updated: Dec 9, 2025

Modeling Stroke in Mice: Permanent Coagulation of the Distal Middle Cerebral Artery
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A Novel COL4A2 Mutation Associated with Recurrent Strokes.

Daryl C McHugh1, Charles Esenwa1

  • 1Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, 111 East 210th Street, Bronx, NY 10467, United States.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|September 11, 2020
PubMed
Summary

Genetic mutations in type four collagens (COL4A1 and COL4A2) are linked to cerebral small vessel disease. A novel COL4A2 mutation, p.A1534S, was identified in a patient with recurrent strokes.

Keywords:
COL4A2Recurrent strokeSmall vessel vasculopathyStrokeStroke in young

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Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral small vessel disease (SVD) encompasses conditions like lacunar infarcts, intracerebral hemorrhages, and leukoaraiosis.
  • Mutations in type four collagen genes (COL4A1 and COL4A2) are known genetic contributors to SVD.

Observation:

  • A patient presented with recurrent cerebral infarcts, indicative of SVD.
  • Neuroimaging revealed multiple lacunar infarcts, microhemorrhages, and advanced leukoaraiosis.

Findings:

  • A novel mutation in the COL4A2 gene, specifically the p.A1534S variant, was identified as the likely cause of the patient's SVD.
  • This finding links a specific COL4A2 mutation to a severe phenotype of cerebral small vessel disease.

Implications:

  • Genetic testing for COL4A2 mutations should be considered in the diagnostic workup of suspected hereditary SVD.
  • Understanding the role of COL4A2 mutations advances the diagnosis and potential therapeutic strategies for SVD.