Genetic testing for cerebral cavernous malformations

Author:

Rakhmanov Yeltay1,Maltese Paolo Enrico1,Marinelli Carla1,D’Agruma Leonardo2,Beccari Tommaso3,Dundar Munis4,Bertelli Matteo15

Affiliation:

1. MAGI’s Lab , Rovereto , Italy

2. Medical Genetic Unit, IRCCS - Hospital “Casa Sollievo della Sofferenza” San Giovanni Rotondo – San Giovanni Rotondo Italy

3. Department of Pharmaceutical Sciences , University of Perugia , Perugia , Italy

4. Department of Medical Genetics , Erciyes University Medical School , Kayseri , Turkey

5. MAGI Euregio , Bolzano , Italy

Abstract

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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics,Molecular Biology,Biomedical Engineering,Molecular Medicine,Food Science,Biotechnology

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