Published Online
on October 20, 2005

A more recent version of this article appeared on November 1, 2005

This Article Full Text (PDF) All Versions of this Article: 36/11/2479    most recent 01.STR.0000183616.99139.d3v1 Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Guclu, B. Articles by Gunel, M. Search for Related Content PubMed PubMed Citation Articles by Guclu, B. Articles by Gunel, M. Pubmed/NCBI databases Gene GEO Profiles HomoloGene Protein UniGene Medline Plus Health Information Arteriovenous Malformations Genetics Home Reference Related Collections Cerebrovascular disease/stroke Genetics of Stroke Other Stroke Treatment - Surgical Other Vascular biology Related Article

Submitted on April 22, 2005
Revised on June 6, 2005
Accepted on June 30, 2005

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; and 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.

^* To whom correspondence should be addressed. 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. (Stroke. 2005;36:2479-2480.)

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

Related Article:

Possible Mechanistic Overlap Between Cavernous Malformations and Cerebral Developmental Venous Anomalies

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

This article has been cited by other articles:

				C. Shi, R. Shenkar, H. Du, E. Duckworth, H. Raja, H. H. Batjer, and I. A. Awad Immune Response in Human Cerebral Cavernous Malformations Stroke, May 1, 2009; 40(5): 1659 - 1665. [Abstract] [Full Text] [PDF]

				W.-H. Tan, H. N Baris, P. E Burrows, C. D Robson, A. I Alomari, J. B Mulliken, S. J Fishman, and M. B Irons The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management J. Med. Genet., September 1, 2007; 44(9): 594 - 602. [Abstract] [Full Text] [PDF]

				S. Stahl and U. Felbor Controversial Molecular Classification of Human Cerebrovascular Malformations Stroke, September 1, 2006; 37(9): 2214 - 2214. [Full Text] [PDF]