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

被引：11

作者：

Siegel, AM

Bertalanffy, H

Dichgans, JJ

Elger, CE

Hopf, H

Hopf, N

Keidel, M

Kleider, A

Nowak, G

Pfeiffer, RA

Schramm, J

Spuck, S

Stefan, H

Sure, U

Baumann, CR

Rouleau, GA

Verlaan, DJ

Andermann, E

Andermann, F

机构：

[1] Univ Spital Zurich, Neurol Klin, Zurich, Switzerland

[2] Univ Marburg, Neurochirurg Klin, D-35032 Marburg, Germany

[3] Univ Tubingen, Neurol Klin, D-7400 Tubingen, Germany

[4] Univ Bonn, Klin Epileptol, D-5300 Bonn, Germany

[5] Johannes Gutenberg Univ Mainz, Neurol Klin, D-6500 Mainz, Germany

[6] Katharinenhosp Stuttgart, Neurochirurg Klin, Stuttgart, Germany

[7] Univ Essen Gesamthsch, Neurol Klin, D-4300 Essen 1, Germany

[8] Neurol Praxis, Darmstadt, Germany

[9] Med Univ Lubeck, Neurol Klin, Lubeck, Germany

[10] Univ Erlangen Nurnberg, Inst Human Genet, D-8520 Erlangen, Germany

[11] Univ Bonn, Neurochirurg Klin, D-5300 Bonn, Germany

[12] Univ Erlangen Nurnberg, Neurol Klin, D-8520 Erlangen, Germany

[13] McGill Univ, Ctr Res Neurosci, Montreal, PQ, Canada

[14] Montreal Neurol Hosp & Inst, Dept Neurogenet, Montreal, PQ H3A 2B4, Canada

[15] Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada

来源：

NERVENARZT | 2005年 / 76卷 / 02期

关键词：

cavernous malformations; familial cavernous malformations; genetics; CCM1; CCM2;

D O I：

10.1007/s00115-004-1779-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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-pl3 (CCM2), and 3q25.2-q27 (CCM13). 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.

引用

页码：175 / 180

页数：6

共 48 条

[1]

Bertalanffy H, 2002, NEUROSURG REV, V25, P1, DOI 10.1007/s101430100179

[2] De novo lesions in familial form of cerebral cavernous malformations: Clinical and MR features in 29 non-hispanic families [J].