Epidemiology and Aetiology of Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are vascular anomalies affecting the central nervous system in up to 0.5% of the population. These lesions are characterised by thin-walled, dilated blood vessels that are susceptible to haemorrhage. They can cause several symptoms, such as epileptic seizures, haemorrhagic strokes, and focal neurological deficits. Clinical studies have revealed the epidemiology and natural history of CCMs. Human genetic studies have identified CCM1, CCM2, and CCM3 as established driver genes, and more recently, PIK3CA and MAP3K3 have been identified as additional potential driver genes. Moreover, on the basis of genetic information, animal studies have developed model organisms, including murine models, that highly recapitulate human CCMs, facilitating the elucidation of molecular mechanisms. This article provides a brief overview of the epidemiology and aetiology of CCMs.