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



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



Der Nervenarzt 76(2): 175-180



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.

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Accession: 049064330

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PMID: 15702360

DOI: 10.1007/s00115-004-1779-3


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