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(Stroke. 2005;36:2339.)
© 2005 American Heart Association, Inc.

Editorials

Possible Mechanistic Overlap Between Cavernous Malformations and Cerebral Developmental Venous Anomalies

Michael E. Sughrue, MD E. Sander Connolly, Jr, MD

From the Department of Neurological Surgery, Columbia University, College of Physicians and Surgeons, New York, NY.

Correspondence to E. Sander Connolly Jr, MD, Associate Professor of Neurological Surgery, Columbia University, College of Physicians and Surgeons, 710 W 168th St, Box 72, New York, NY 10032. E-mail esc5@columbia.edu

Key Words: cavernous malformations

An extract of the first 250 words of the full text is provided, because this article has no abstract.

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 absence of the mutation in the KRIT1 gene. From these data, they then conclude that the CCM is pathologically distinct from the CVM.

Although the exceeding rarity of the event described in and of itself makes this a very interesting observation, the true significance of this observation is that inheritance of the KRIT1 Malcaverin or PDCD10 mutations is probably not required for the formation of CVMs in humans. However, the study performed does not exclude the possibility that CVMs and CCMs are lesions of polyfactorial origin, or that there is significant overlap between the pathogenesis of CVMs and CCMs not specifically addressed in the current work. The study by Abe et al (cited in the manuscript) reported a 23% rate of CCM/CVM coexistence, which is far greater than the rate of CCMs in the general population (0.02% to 0.13%), strongly suggesting that these lesions share some commonality.¹ Denier et al reported that carriers of KRIT1 mutations develop . . . [Full Text of this Article]

Related Article:

Cerebral Venous Malformations Have Distinct Genetic Origin From Cerebral Cavernous Malformations

Bulent Guclu, Ali K. Ozturk, Katie L. Pricola, Askin Seker, Memet Ozek, and Murat Gunel
Stroke 2005 36: 2479-2480. [Abstract] [Full Text] [PDF]