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Der Nervenarzt

, Volume 76, Issue 2, pp 175–180 | Cite as

Familiäre Kavernome des Zentralnervensystems

Eine klinische und genetische Studie an 15 deutsche Familien
  • A. M. SiegelEmail author
  • 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
Originalien

Zusammenfassung

1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben. Ebenfalls wurden drei Genloci 7q21-q22 (mit dem Gen CCM1), 7p15-p13 (Gen CCM2) und 3q25.2-q27 (Gen CCM3) beschrieben, in denen Mutationen zu Kavernomen führen. Das Genprodukt von CCM1 ist das Protein Krit1 (Krev Interaction Trapped 1), das über verschiedene Mechanismen mit der Angiogenese interagiert. Das neu entdeckte CCM2-Gen enkodiert ein Protein, das möglicherweise eine dem Krit1 ähnliche Funktion in der Regulation der Angiogenese hat. Das CCM3-Gen wurde noch nicht beschrieben. In dieser Arbeit werden sowohl die klinischen und genetischen Befunde bei 15 deutschen Familien beschrieben.

Schlüsselwörter

Kavernome Familäre Kavernome Genetik CCM1 CCM2 

Familial cavernous malformations of the central nervous system

A clinical and genetic study of 15 German families

Summary

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.

Keywords

Cavernous malformations Familial cavernous malformations Genetics CCM1 CCM2 

Notes

Interessenkonflikt

Keine Angaben

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • A. M. Siegel
    • 1
    • 16
    Email author
  • H. Bertalanffy
    • 2
  • J. J. Dichgans
    • 3
  • C. E. Elger
    • 4
  • H. Hopf
    • 5
  • N. Hopf
    • 6
  • M. Keidel
    • 7
  • A. Kleider
    • 8
  • G. Nowak
    • 9
  • R. A. Pfeiffer
    • 10
  • J. Schramm
    • 11
  • S. Spuck
    • 9
  • H. Stefan
    • 12
  • U. Sure
    • 2
  • C. R. Baumann
    • 1
  • G. A. Rouleau
    • 13
  • D. J. Verlaan
    • 13
  • E. Andermann
    • 14
  • F. Andermann
    • 15
  1. 1.Neurologische KlinikUniversitätsspital Zürich
  2. 2.Neurochirurgische UniversitätsklinikUniversität Marburg
  3. 3.Neurologische UniversitätsklinikUniversität Tübingen
  4. 4.Universitätsklinik für EpileptologieUniversität Bonn
  5. 5.Neurologische UniversitätsklinikUniversität Mainz
  6. 6.Neurochirurgische KlinikKatharinenhospital Stuttgart
  7. 7.Neurologische UniversitätsklinikUniversität Essen
  8. 8.Neurologische PraxisDarmstadt
  9. 9.Neurochirurgische UniversitätsklinikUniversität Lübeck
  10. 10.Institut für HumangenetikFriedrich-Alexander Universität Erlangen-Nürnberg
  11. 11.Neurochirurgische UniversitätsklinikUniversität Bonn
  12. 12.Neurologische UniversitätsklinikFriedrich-Alexander Universität Erlangen-Nürnberg
  13. 13.Centre for Research in NeuroscienceMcGill UniversityMontrealKanada
  14. 14.Department of NeurogeneticsMontreal Neurological Hospital and InstituteMontrealKanada
  15. 15.Department of Neurology and NeurosurgeryMontreal Neurological Hospital and InstituteMontrealKanada
  16. 16.Neurologische Klinik ZürichZürichSchweiz

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