A Novel COL4A2 Mutation Associated with Recurrent Strokes

J Stroke Cerebrovasc Dis. 2020 Oct;29(10):105156. doi: 10.1016/j.jstrokecerebrovasdis.2020.105156. Epub 2020 Jul 25.

Abstract

Mutations in type four collagens, specifically COL4A1 and COL4A2, have been associated with cerebral small vessel disease (SVD), defined as lacunar infarcts, deep intracerebral hemorrhages (ICH), and leukoaraiosis. We present a case of a man with recurrent cerebral infarcts, related to a novel COL4A2 mutation, the p.A1534S variant. Magnetic resonance imaging demonstrated multiple lacunar infarcts, numerous deep and lobar microhemorrhages and advanced leukoaraiosis. Evaluation for COL4A2 mutations should be considered when suspecting a genetic cerebral small vessel disease.

Keywords: COL4A2; Recurrent stroke; Small vessel vasculopathy; Stroke; Stroke in young.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Infarction / diagnostic imaging
  • Cerebral Infarction / genetics*
  • Collagen Type IV / genetics*
  • DNA Mutational Analysis
  • Exome Sequencing
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Intracranial Hemorrhages / diagnostic imaging
  • Intracranial Hemorrhages / genetics*
  • Leukoaraiosis / diagnostic imaging
  • Leukoaraiosis / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype
  • Recurrence

Substances

  • COL4A2 protein, human
  • Collagen Type IV