1. [Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families]
- Author
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A M, Siegel, H, Bertalanffy, J J, Dichgans, C E, Elger, H, Hopf, N, Hopf, M, Keidel, A, Kleider, G, Nowak, R A, Pfeiffer, J, Schramm, S, Spuck, H, Stefan, U, Sure, C R, Baumann, G A, Rouleau, D J, Verlaan, E, Andermann, and F, Andermann
- Subjects
Adult ,Intracranial Arteriovenous Malformations ,Male ,Polymorphism, Genetic ,DNA Mutational Analysis ,Brain ,Risk Assessment ,Pedigree ,Risk Factors ,Germany ,Proto-Oncogene Proteins ,Prevalence ,Humans ,Female ,Genetic Predisposition to Disease ,Genetic Testing ,Carrier Proteins ,KRIT1 Protein ,Microtubule-Associated Proteins - Abstract
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.
- Published
- 2005