Article
[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].
Der Nervenarzt - 1 Feb 2005
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
Abstract excerpt
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...
Topics
- Adult
- Brain
- Carrier Proteins
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Germany
- Humans
- Intracranial Arteriovenous Malformations