[Genetic Disorders Associated with Migraine and Cerebrovascular Diseases]

Migraine is a chronic neurological disorder that is clinically characterized by recurrent headache attacks. Approximately 30% of migraine sufferers experience transient neurological symptoms, termed aura. Several monogenic migraine syndromes present with hemiparesis/hemiplegia as an aura. Familial hemiplegic migraine types 1,2, and 3 are registered in the OMIM database. Although the discovery of the genetic abnormalities underlying these syndromes has advanced our understanding of migraine pathogenesis, especially regarding neuronal mechanisms, genome-wide association studies focusing on migraines have also highlighted the importance of vascular dysfunction. Intriguingly, hereditary cerebral small-vessel diseases are frequently associated with migraines. This article reviews the pathophysiological mechanisms of migraines and cerebrovascular diseases (cerebral small vessel disease and moyamoya disease) from the perspective of genetic abnormalities.