Genetic investigations on intracranial aneurysm: update and perspectives

Abstract

Detection of an intracranial aneurysm (IA) is a common finding in MRI practice. Nowadays, the incidence of unruptured IA seems to be increasing with the continuous evolution of imaging techniques. Important modifiable risk factors for SAH are well defined, but familial history of IA is the best risk marker for the presence of IA. Numerous heritable conditions are associated with IA formation but these syndromes account for less than 1% of all IAs in the population. No diagnostic test based on genetic knowledge is currently available to identify theses mutations and patients who are at higher risk for developing IAs. In the longer term, a more comprehensive understanding of independent and interdependent molecular pathways germane to IA formation and rupture may guide the physician in developing targeted therapies and optimizing prognostic risk assessment.

Keywords: Aneurysm; Genetics; Intracranial.