About this Journal Submit a Manuscript Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 459253, 8 pages
http://dx.doi.org/10.1155/2013/459253
Research Article

Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients

1Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy
2IRCCS Centro Neurolesi “Bonino-Pulejo”, Via Palermo SS. 113, Contrada Casazza, 98122 Messina, Italy
3Department of Neurosciences, University of Messina, Via C. Valeria 1, 98125 Messina, Italy
4Biology and Cellular Biotechnologies, Department of Animal Biology and Marine Ecology, University of Messina, Salita Sperone 31, 98166 S. Agata, Messina, Italy
5Clinic of Neurosurgery, United Hospitals “Papardo-Piemonte”, Contrada Sperone, 98158 Messina, Italy

Received 17 April 2013; Revised 9 July 2013; Accepted 12 July 2013

Academic Editor: Michel Mittelbronn

Copyright © 2013 Rosalia D’Angelo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10). CCMs occur as a single or multiple malformations that can lead to seizures, focal neurological deficits, hemorrhagic stroke, and headache. However, patients are frequently asymptomatic. In our previous mutation screening, performed in a cohort of 95 Italian patients, both sporadic and familial, we have identified several mutations in CCM genes, three of which in three distinct sporadic patients. In this study, representing further molecular screening of the three CCM genes, in a south Italian cohort of CCM patients enrolled by us in the last three years, we report the identification of other four new mutations in 40 sporadic patients with either single or multiple CCM.