Genetic testing for cerebral cavernous malformations

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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.

1. Porter PJ, Willinsky RA, Harper W, Wallace MC. Cerebral cavernous malformations: natural history and prognosis after clinical deterioration with or without hemorrhage. J Neurosurg 1997; 87(2): 190-97.

2. Tournier-Lasserve E. Familial cerebral cavernous malformation. Orphanet encyclopedia. 2014

3. Labauge P, Laberge S, Brunereau L, Levy C, Tournier-Lasserve E. Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Societe Francaise de Neurochirurgie. Lancet 1998; 352: 1892–97.

4. Petersen TA, Morrison LA, Schrader RM, Hart BL. Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. AJNR Am J Neuroradiol 2010; 31(2): 377–82.

5. Verlaan DJ, Laurent SB, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau G.A, Siegel A.M. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology 2004; 62(7): 1213–15.

6. Labauge P, Brunereau L, Coubes P, Clanet M, Tannier C, Laberge S, Levy C. Appearance of new lesions in two nonfamilial cerebral cavernoma patients. Eur Neurol 2001; 45(2): 83–88.

7. Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, Spetzler RF. Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med 1988; 319(6): 343–47.

8. Morrison L, Akers A. Cerebral Cavernous Malformation, Familial. 2003 Feb 24. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® 1993-2018. Available from:

9. Choquet H, Pawlikowska L, Lawton MT, Kim H. Genetics of cerebral cavernous malformations: current status and future prospects. J Neurosurg Sci 2015; 59(3): 211-20.

10. Gault J, Awad IA, Recksiek P, Shenkar R, Breeze R, Handler M, Kleinschmidt-DeMasters BK. Cerebral cavernous malformations: somatic mutations in vascular endothelial cells. Neurosurgery 2009; 65(1): 138-44.

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