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  • Author: Leonardo D’Agruma x
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Yeltay Rakhmanov, Paolo Enrico Maltese, Carla Marinelli, Leonardo D’Agruma, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Cavernous cerebral malformations (CCM) are vascular malformations of the brain and spinal cord. CCM affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhage and focal neurological deficit. CCM may be familial or sporadic. Familial forms have autosomal dominant inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.