Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations

Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations.

BACKGROUND AND PURPOSE Pathogenesis of cerebral venous malformation (CVM) is unknown. Because of coexistence of CVM and cerebral cavernous malformations (CCM), some studies have suggested that these 2 entities share a common origin and pathogenetic mechanism. METHODS We have identified and ascertained over 200 families with CCM. Among these, 1 unique family was found to have members affected ...

Cerebral cavernous malformations.

Clinical reasoning: cerebral cavernous malformations.

Lama M. Chahine, MD Michel J. Berg, MD SECTION 1 A 40-year-old man presented for management of seizures. His first seizure was 5 years earlier. Evaluation at that time revealed a hemorrhagic lesion near the occipital horn of the left lateral ventricle. Incomplete surgical excision was performed with indeterminate pathology suggestive of an astrocytoma. MRI demonstrated 7 separate lesions consis...

The cerebral cavernous malformations proteins.

Inherited mutations in three genes lead to the familial form of Cerebral Cavernous Malformations (CCM). These vascular dysplasias most commonly occur in the brain, and manifest as dilated, mulberry-shaped lesions with a single endothelial layer. The consequences of these lesions can be leakage and sequelae such as focal neurological deficits, epilepsy, or hemorrhagic stroke. Until recently, how...

Cerebral cavernous malformations: clinical insights from genetic studies.

Familial disease is responsible for one third to one half of cerebral cavernous malformation (CCM) cases presenting to clinical attention. Much has been learned in the past decade about the genetics of these cases, which are all inherited in an autosomal dominant pattern, at three known chromosome loci. Unique features of inherited CCMs in Hispanic-Americans of Mexican descent have been describ...