Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):426-8. doi: 10.1136/jnnp.2008.149419.

Abstract

Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the challenge in recognising patients with filamin A mutations. The patient, a 71-year-old woman, was known to have heart valve disease and bilateral periventricular nodular heterotopia when she died of a subarachnoid haemorrhage. Autopsy showed typical cerebral bilateral periventricular heterotopia and vascular abnormalities. Postmortally, the diagnosis of a filamin A mutation was confirmed. Recognition during life may prevent cardiovascular problems and provide possibilities for genetic counselling.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Brain / pathology
  • Cerebral Angiography
  • Contractile Proteins / genetics*
  • DNA / genetics
  • Exons / genetics
  • Fatal Outcome
  • Female
  • Filamins
  • Heart Defects, Congenital / etiology*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Intracranial Aneurysm / etiology*
  • Intracranial Aneurysm / genetics*
  • Intracranial Aneurysm / pathology
  • Magnetic Resonance Angiography
  • Microfilament Proteins / genetics*
  • Mutation / genetics*
  • Mutation / physiology*
  • Periventricular Nodular Heterotopia / etiology*
  • Periventricular Nodular Heterotopia / genetics*
  • Periventricular Nodular Heterotopia / pathology
  • Tomography, X-Ray Computed

Substances

  • Contractile Proteins
  • Filamins
  • Microfilament Proteins
  • DNA