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(Stroke. 2005;36:2479.)
© 2005 American Heart Association, Inc.

Research Reports

Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations

Bulent Guclu, MD; Ali K. Ozturk, BA; Katie L. Pricola, BA; Askin Seker, MD; Memet Ozek, MD Murat Gunel, MD

From the Yale Neurovascular Surgery Program (B.G., A.K.O., K.L.P., M.G.), Department of Neurosurgery, Yale University School of Medicine, New Haven, Conn; Acibadem Hospital (A.S.), Istanbul, Turkey; Marmara University School of Medicine (M.O.), Istanbul, Turkey.

Correspondence to Murat Gunel, Yale Neurovascular Surgery Program, Department of Neurosurgery, Yale University School of Medicine, 333 Cedar St, TMP4, New Haven, CT, 06510. E-mail murat.gunel{at}yale.edu

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.

Key Words: cerebral venous malformation • cerebral cavernous malformation • KRIT1 • molecular genetics

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Possible Mechanistic Overlap Between Cavernous Malformations and Cerebral Developmental Venous Anomalies

Michael E. Sughrue and E. Sander Connolly, Jr
Stroke 2005 36: 2339. [Full Text] [PDF]

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