HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) All Versions of this Article: jmg.2006.041079v1 43/9/716    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Revencu, N Articles by Vikkula, M Search for Related Content PubMed PubMed Citation Articles by Revencu, N Articles by Vikkula, M Pubmed/NCBI databases OMIM Genetics Home Reference

Cerebral cavernous malformation: new molecular and clinical insights

¹ Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université catholique de Louvain, Brussels, Belgium
² Centre for Human Genetics, Cliniques universitaires St Luc, Brussels, Belgium

Correspondence to:
Professor Miikka Vikkula
Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université catholique de Louvain, Avenue Hippocrate 74, BP 75.39, B-1200 Brussels, Belgium; vikkula{at}bchm.ucl.ac.be] Cerebral cavernous malformation (CCM) is a vascular malformation causing neurological problems, such as headaches, seizures, focal neurological deficits, and cerebral haemorrhages. CCMs can occur sporadically or as an autosomal dominant condition with variable expression and incomplete penetrance. Familial forms have been linked to three chromosomal loci, and loss of function mutations have been identified in the KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3 genes. Recently, many new pieces of data have been added to the CCM puzzle. It has been shown that the three CCM genes are expressed in neurones rather than in blood vessels. The interaction between CCM1 and CCM2, which was expected on the basis of their structure, has also been proven, suggesting a common functional pathway. Finally, in a large series of KRIT1 mutation carriers, clinical and neuroradiological features have been characterised. These data should lead to more appropriate follow up, treatment, and genetic counselling. The recent developments will also help to elucidate the precise pathogenic mechanisms leading to CCM, contributing to a better understanding of normal and pathological angiogenesis and to the development of targeted treatment.

Abbreviations: CCM, cerebral cavernous malformation

Keywords: CCM; cerebral cavernous malformation; angiogenesis; vascular malformation

This article has been cited by other articles:

				P. Brouillard and M. Vikkula Genetic causes of vascular malformations Hum. Mol. Genet., October 15, 2007; 16(R2): R140 - R149. [Abstract] [Full Text] [PDF]

				S. Battistini, R. Rocchi, A. Cerase, A. Citterio, L. Tassi, G. Lando, M. C. Patrosso, R. Galli, P. Brunori, D. L. Sgro, et al. Clinical, Magnetic Resonance Imaging, and Genetic Study of 5 Italian Families With Cerebral Cavernous Malformation Arch Neurol, June 1, 2007; 64(6): 843 - 848. [Abstract] [Full Text] [PDF]