KRIT1 and cerebral cavernous malformation: Cerebral cavernous malformations (CCM; MIM 116860, 603284, 603285) are autosomal dominantly inherited vascular malformations mainly caused by unambiguously pathogenic heterozygous loss-of-function mutations in one of three genes, CCM1,CCM2 or CCM3. In 2008, we had presented a first follow-up on 28 probands affected with CCM (Stahl et al.