[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families]
| Autor: | 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, F, Andermann |
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| Jazyk: | němčina |
| Rok vydání: | 2005 |
| Předmět: |
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 |
| Zdroj: | Der Nervenarzt. 76(2) |
| ISSN: | 0028-2804 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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