Postgrad Med J 83:590-595 doi:10.1136/pgmj.2007.060319
  • Review

The role of genetics in stroke

  1. John Francis,
  2. Senthil Raghunathan,
  3. Pradeep Khanna
  1. Nevill Hall Hospital, Abergavenny, UK
  1. Correspondence to:
 John Francis
 Nevill Hall Hospital, Brecon Road, Abergavenny, NP7 7EG, UK; FrancisJA{at}
  • Received 29 March 2007
  • Accepted 22 May 2007


Stroke is a leading cause of death and disability in developed countries. While both modifiable and non-modifiable risk factors are acknowledged, studies have shown that these may account for just 50% of stroke risk and that other factors, including genetic ones, may be important. Over recent years family history, twin and candidate gene studies have supported this and various mendelian stroke syndromes have now been identified in humans. This article provides an up-to-date summary of the common single gene disorders associated with stroke as a principle manifestation, including their genetic basis, pathogenesis, presentation and suggested management. Often these disorders present with stroke at a young age; this article provides a practical approach to the management and investigation of a young stroke patient.


  • Competing interests: None.