期刊
STROKE
卷 36, 期 11, 页码 2479-2480出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/01.STR.0000183616.99139.d3
关键词
cerebral venous malformation; cerebral cavernous malformation; KRIT1; molecular genetics
资金
- NINDS NIH HHS [R01NS046521] Funding Source: Medline
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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