Genetics of intracranial aneurysms

Area of Science:

• Neurology
• Genetics
• Vascular Biology

Background:

• Intracranial aneurysms (IAs) have complex causes, with genetics playing a crucial role.
• Heritable connective tissue disorders are linked to IAs, though firmly established for autosomal dominant polycystic kidney disease.
• Familial intracranial aneurysms represent a significant portion of cases and are often not linked to known connective tissue disorders.

Purpose of the Study:

• To explore the genetic etiology and pathogenesis of intracranial aneurysms.
• To investigate the familial aggregation and inheritance patterns of intracranial aneurysms.
• To assess the potential benefits and yield of screening for asymptomatic intracranial aneurysms in high-risk families.

Main Methods:

• Review of literature on genetic factors and heritable connective tissue disorders associated with intracranial aneurysms.
• Analysis of familial aggregation studies and inheritance patterns in patients with intracranial aneurysms.
• Evaluation of the potential yield of screening programs for asymptomatic intracranial aneurysms.

Main Results:

• Genetic factors are increasingly recognized in the multifactorial etiology of intracranial aneurysms.
• First-degree relatives of patients with aneurysmal subarachnoid hemorrhage have a fourfold increased risk.
• Familial intracranial aneurysms account for 7-20% of cases and suggest genetic heterogeneity.

Conclusions:

• Genetic predisposition plays a significant role in the development of intracranial aneurysms.
• Screening for asymptomatic intracranial aneurysms may be beneficial in families with multiple affected members.
• Ongoing research aims to identify specific genes contributing to intracranial aneurysm susceptibility.