Article
Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.
Clinical genetics - 1 Jan 2013
Bacigaluppi S, Retta S F, Pileggi S, Fontanella M, Goitre L, Tassi L, La Camera A, Citterio A, Patrosso M C, Tredici G, Penco S
Abstract excerpt
Cerebral cavernous malformations (CCMs) are a diffuse cerebrovascular disease affecting approximately 0.5% of the population. A CCM is characterized by abnormally enlarged and leaky capillaries arranged in mulberry-like structures with no clear flow pattern. The lesion might predispose to seizures, focal neurological deficits or fatal intracerebral hemorrhage. However, a CCM can also remain neurologically silent....
Topics
- Brain
- Central Nervous System
- Cerebral Hemorrhage
- Genetic Counseling
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Microtubule-Associated Proteins
- Molecular Targeted Therapy
- Mutation