Hongo Hiroki, Teranishi Yu, Miyawaki Satoru, Saito Nobuhito
Department of Neurosurgery, the University of Tokyo.
No Shinkei Geka. 2022 Jan;50(1):206-215. doi: 10.11477/mf.1436204545.
Cerebral cavernous malformations(CCMs)are vascular anomalies characterized by clusters of dilated capillaries and veins. They frequently cause epileptic seizures, hemorrhagic strokes, and focal neurological deficits. At present, CCMs can be treated only by surgical resection. However, the identification of germline and somatic mutations and the associated signaling pathways have improved our understanding of the underlying mechanisms; this has further led to testing of targeted molecular therapies for the disease. This review summarizes the current knowledge on the molecular pathogenesis of CCMs.