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Stroke. 2005 Nov;36(11):2479-80. Epub 2005 Oct 20.

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

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1
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.

Abstract

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 by both disorders. We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family.

RESULTS:

Mutational analysis revealed a frameshift mutation affecting exon 19 of the CCM1 gene (KRIT1) in members with CCM, whereas no such mutation was observed in the member with CVM.

CONCLUSIONS:

These findings support the hypothesis that CVM and CCM are 2 distinct entities with different pathogenetic mechanisms. This data further supports the hypothesis that CVM has a distinct biology and clinical behavior when compared to CCM. CVM is a benign developmental anomaly and should be managed separately from CCM.

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