Familial cerebral cavernous malformations (FCCM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Familial cerebral cavernous malformations (FCCM). CCM1 (KRIT 1), CCM2 (Malcavernin/MGC4607), CCM3 (PDCD10). Fully referenced neurology checklist.
Genetic mutations
- CCM1 (KRIT 1)
- CCM2 (Malcavernin/MGC4607)
- CCM3 (PDCD10)
Cranial cavernomas
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Cutaneous cavernomas: types
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Other cavernoma locations
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Other features
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Recommendations for genetic testing
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References
- de Vos IJ, Vreeburg M, Koek GH, van Steensel MA. Review of familial cerebral cavernous malformations and report of seven additional families. Am J Med Genet A 2017; 173:338-351.
- Labauge P, Brunereau L, Laberge S, Houtteville JP. Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations. Neurology 2001; 57:1825–1828.
- Ahdab R, Riant F, Brugières B, Roujeau JC, Hodel J, Hosseini H. Familial cerebral cavernous malformations associated with palmar capillary telangiectasias. Neurology 2008; 71:861-862.
- Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P. Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations. J Eur Acad Dermatol Venereol 2009; 23:1066-1072.
- Kuroedov D, Cunha B, Pamplona J, Castillo M, Ramalho J. Cerebral cavernous malformations: typical and atypical imaging characteristics. J Neuroimaging 2022 (Online ahead of print).
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