Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families

Graeni, C; Stepper, F; Sturzenegger, M; Merlo, A; Verlaan, D J; Andermann, F; Baumann, C R; Bonassin, F; Georgiadis, D; Baumgartner, R W; Rouleau, G A; Siegel, A M (2010). Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families. Neurosurgical review, 33(1), pp. 47-51. Berlin: Springer 10.1007/s10143-009-0225-1

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Cavernous malformations (CCMs) are benign, well-circumscribed, and mulberry-like vascular malformations that may be found in the central nervous system in up to 0.5% of the population. Cavernous malformations can be sporadic or inherited. The common symptoms are epilepsy, hemorrhages, focal neurological deficits, and headaches. However, CCMs are often asymptomatic. The familiar form is associated with three gene loci, namely 7q21-q22 (CCM1), 7p13-p15 (CCM2), and 3q25.2-q27 (CCM3) and is inherited as an autosomal dominant trait with incomplete penetrance. The CCM genes are identified as Krit 1 (CCM1), MGC4607 (CCM2), and PDCD10 (CCM3). Here, we present the clinical and genetic features of CCMs in 19 Swiss families. Furthermore, surgical aspects in such families are also discussed.

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