Cerebral cavernous malformation etiology

• A Systematic Review of MicroRNAs in Hemorrhagic Neurovascular Disease: Cerebral Cavernous Malformations as a Paradigm
• Natural history, management, and outcomes of cerebellar cavernous malformations: A retrospective study of 130 patients
• Plasma biomarkers in patients with familial cavernous malformation and their first-degree relatives: a cross-sectional study
• Local DIO2 Elevation Is an Adaption in Malformed Cerebrovasculature
• Map3k3 (I441M) Knock-In Mouse Model of Cerebral Cavernous Malformations
• Genetic Insights Into Hemorrhagic Stroke and Vascular Malformations: Pathogenesis and Emerging Therapeutic Strategies
• Giant cavernous malformation: a rare paediatric presentation
• Genetic inactivation of the beta1 adrenergic receptor prevents cerebral cavernous malformations in zebrafish

Cerebral cavernous malformation (CM) is a sporadic vascular malformation occurring either as an autosomal dominant condition or as a well-known complication of radiation exposure.

CCMs arise due to loss of function in one of the genes that encode the CCM complex, a negative regulator of MEKK3-KLF2/4 signaling in vascular endothelial cells. Gain-of-function mutations in PIK3CA (encoding the enzymatic subunit of the PI3K (phosphoinositide 3-kinase) pathway associated with cell growth) synergize with CCM gene loss-of-function to generate rapidly growing lesions ¹⁾

see Radiation induced cerebral cavernous malformation.

see Cerebral cavernous malformation pathogenesis.