Article
Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.
Metabolic brain disease - 1 Oct 2021
Lanfranconi Silvia, Piergallini Lorenzo, Ronchi Dario, Valcamonica Gloria, Conte Giorgio, Marazzi Elena, Manenti Giulia, Bertani Giulio Andrea, Locatelli Marco, Triulzi Fabio, Bresolin Nereo, Scola Elisa, Comi Giacomo Pietro
Abstract excerpt
Cerebral cavernous malformations (CCM) consist of clusters of irregular dilated capillaries and represent the second most common type of vascular malformation affecting the central nervous system. CCM might be asymptomatic or cause cerebral hemorrhage, seizures, recurrent headaches and focal neurologic deficits. Causative mutations underlining CCM have been reported in three genes: KRIT1/CCM1, MGC4607/CCM2 and...
Topics
- Apoptosis Regulatory Proteins
- Carrier Proteins
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Membrane Proteins
- Microtubule-Associated Proteins
- Mutation
- Proto-Oncogene Proteins