Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations
STROKE, vol.36, no.11, pp.2479-2480, 2005 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 36 Issue: 11
- Publication Date: 2005
- Doi Number: 10.1161/01.str.0000183616.99139.d3
- Journal Name: STROKE
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.2479-2480
- Acibadem Mehmet Ali Aydinlar University Affiliated: No
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.