Literature DB >> 15702360

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

A M Siegel1, 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.   

Abstract

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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Year:  2005        PMID： 15702360     DOI： 10.1007/s00115-004-1779-3

Source DB:  PubMed          Journal:  Nervenarzt        ISSN： 0028-2804            Impact factor:   1.214


  41 in total

1.  Interaction of the integrin beta1 cytoplasmic domain with ICAP-1 protein.

Authors:  X A Zhang; M E Hemler
Journal:  J Biol Chem       Date:  1999-01-01       Impact factor: 5.157

2.  Genetic heterogeneity of inherited cerebral cavernous malformation.

Authors:  M Günel; I A Awad; K Finberg; G K Steinberg; H D Craig; O Cepeda; C Nelson-Williams; R P Lifton
Journal:  Neurosurgery       Date:  1996-06       Impact factor: 4.654

3.  Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

Authors:  T Sahoo; E W Johnson; J W Thomas; P M Kuehl; T L Jones; C G Dokken; J W Touchman; C J Gallione; S Q Lee-Lin; B Kosofsky; J H Kurth; D N Louis; G Mettler; L Morrison; A Gil-Nagel; S S Rich; J M Zabramski; M S Boguski; E D Green; D A Marchuk
Journal:  Hum Mol Genet       Date:  1999-11       Impact factor: 6.150

Review 4.  [131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies].

Authors:  P Otten; G P Pizzolato; B Rilliet; J Berney
Journal:  Neurochirurgie       Date:  1989       Impact factor: 1.553

Review 5.  Cerebral cavernous malformations: mutations in Krit1.

Authors:  D J Verlaan; W J Davenport; H Stefan; U Sure; A M Siegel; G A Rouleau
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

6.  Cerebral cavernous malformations. Incidence and familial occurrence.

Authors:  D Rigamonti; M N Hadley; B P Drayer; P C Johnson; K Hoenig-Rigamonti; J T Knight; R F Spetzler
Journal:  N Engl J Med       Date:  1988-08-11       Impact factor: 91.245

7.  Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent.

Authors:  M H Polymeropoulos; O Hurko; F Hsu; J Rubenstein; S Basnet; K Lane; H Dietz; R F Spetzler; D Rigamonti
Journal:  Neurology       Date:  1997-03       Impact factor: 9.910

8.  Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22.

Authors:  I Serebriiskii; J Estojak; G Sonoda; J R Testa; E A Golemis
Journal:  Oncogene       Date:  1997-08-28       Impact factor: 9.867

9.  Multiple familial cavernous malformations evaluated over three generations with MR.

Authors:  M Horowitz; D Kondziolka
Journal:  AJNR Am J Neuroradiol       Date:  1995 Jun-Jul       Impact factor: 3.825

10.  The natural history of familial cavernous malformations: results of an ongoing study.

Authors:  J M Zabramski; T M Wascher; R F Spetzler; B Johnson; J Golfinos; B P Drayer; B Brown; D Rigamonti; G Brown
Journal:  J Neurosurg       Date:  1994-03       Impact factor: 5.115
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  5 in total

1.  CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics.

Authors:  Karl Hartmann; Klaus-Peter Stein; Belal Neyazi; Ute Felbor; Sven Hethey; I Erol Sandalcioglu
Journal:  Neurosurg Rev       Date:  2019-06-06       Impact factor: 3.042

Review 2.  Multiple cerebral cavernous malformations associated with extracranial mesenchymal anomalies.

Authors:  Ardavan Ardeshiri; Ardeshir Ardeshiri; Andres Beiras-Fernandez; Ortrud K Steinlein; Peter A Winkler
Journal:  Neurosurg Rev       Date:  2007-10-24       Impact factor: 3.042

3.  Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families.

Authors:  C Graeni; F Stepper; M Sturzenegger; A Merlo; D J Verlaan; F Andermann; C R Baumann; F Bonassin; D Georgiadis; R W Baumgartner; G A Rouleau; A M Siegel
Journal:  Neurosurg Rev       Date:  2009-09-17       Impact factor: 3.042

4.  Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.

Authors:  Winnie Schröder; Juliane Najm; Stefanie Spiegler; Martina Mair; Julio Viera; Wolfram Henn; Ute Felbor
Journal:  Neurosurg Rev       Date:  2013-05-31       Impact factor: 3.042

5.  High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Authors:  Stefanie Spiegler; Juliane Najm; Jian Liu; Stephanie Gkalympoudis; Winnie Schröder; Guntram Borck; Knut Brockmann; Miriam Elbracht; Christine Fauth; Andreas Ferbert; Leonie Freudenberg; Ute Grasshoff; Yorck Hellenbroich; Wolfram Henn; Sabine Hoffjan; Irina Hüning; G Christoph Korenke; Peter M Kroisel; Erdmute Kunstmann; Martina Mair; Susanne Munk-Schulenburg; Omid Nikoubashman; Silke Pauli; Sabine Rudnik-Schöneborn; Irene Sudholt; Ulrich Sure; Sigrid Tinschert; Michaela Wiednig; Barbara Zoll; Mark H Ginsberg; Ute Felbor
Journal:  Mol Genet Genomic Med       Date:  2014-01-14       Impact factor: 2.183
  5 in total

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