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See related article, pages 2479–2480. The authors report interesting observations that could potentially provide significant insight into the pathogenesis of cavernous malformations (CCMs) and cerebral developmental venous anomalies (CVMs). Most notably, the authors demonstrate that in this individual family, CCMs and CVMs occur independently in different individuals, and that this CCM/CVM dissociation is related to the presence or absence of a frameshift mutation in the CCM1 ( KRIT1 ) gene. In other words, they demonstrate that in this family, possession of this CCM1 mutation is associated with CCMs, whereas CVMs occurred in …

Possible Mechanistic Overlap Between Cavernous Malformations and Cerebral Developmental Venous Anomalies