Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families

• Published in: Nervenarzt 2005-02, Vol.76 (2), p.175-180
• Main Authors: Siegel, A M, Bertalanffy, H, Dichgans, J J, Elger, C E, Hopf, H, Hopf, N, Keidel, M, Kleider, A, Nowak, G, Pfeiffer, R A, Schramm, J, Spuck, S, Stefan, H, Sure, U, Baumann, C R, Rouleau, G A, Verlaan, D J, Andermann, E, Andermann, F
• Format: Article
• Language: ger
• Subjects: Adult; Brain - metabolism; Carrier Proteins - genetics; DNA Mutational Analysis - methods; Female; Genetic Predisposition to Disease - epidemiology; Genetic Testing - methods; Germany - epidemiology; Humans; Intracranial Arteriovenous Malformations - epidemiology; Intracranial Arteriovenous Malformations - genetics; Intracranial Arteriovenous Malformations - metabolism; KRIT1 Protein; Male; Microtubule-Associated Proteins - genetics; Pedigree; Polymorphism, Genetic; Prevalence; Proto-Oncogene Proteins - genetics; Risk Assessment - methods; Risk Factors
• ISSN: 0028-2804
• DOI: 10.1007/s00115-004-1779-3

In 1928, Hugo Friedrich Kufs reported on a family with cerebral, retinal, and cutaneous cavernous malformations. Since then, more than 300 families with inherited cavernous malformations have been reported. Genetic studies showed three loci, on chromosomes 7q21-q22 (with the gene CCM1), 7p15-p13 (CCM2), and 3q25.2-q27 (CCM3). The gene product of CCM1 is Krit 1 (Krev interaction trapped 1), a protein interacting with angiogenesis by various mechanisms. Recently, CCM2 has also been identified; its product is a protein which might have a function similar to that of Krit 1. However, the CCM3 gene has still not been found. In this study, we present clinical and genetic findings on 15 German families.