Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

被引：66

作者：

Haasdijk, Remco A. ^{[1
]}

Cheng, Caroline ^{[1
]}

Maat-Kievit, Anneke J. ^{[2
]}

Duckers, Henricus J. ^{[1
]}

机构：

[1] Erasmus MC, Mol Cardiol Lab, NL-3000 CA Rotterdam, Netherlands

[2] Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 02期

关键词：

CCM; molecular mechanism; genetic counselling; 20-LIKE KINASE-3 MST3; VASCULAR INTEGRITY; CEREBROVASCULAR MALFORMATIONS; TRUNCATING MUTATIONS; ENDOTHELIAL-CELLS; SIGNALING PATHWAY; CCM PATHOGENESIS; NATURAL-HISTORY; RECENT INSIGHTS; LUMEN FORMATION;

D O I：

10.1038/ejhg.2011.155

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures. In this article, we review the clinical features, molecular and genetic basis of the disease, and management. European Journal of Human Genetics (2012) 20, 134-140; doi:10.1038/ejhg.2011.155; published online 10 August 2011

引用

页码：134 / 140

页数：7

共 85 条

[1] Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis [J].

Akers, Amy L. ;

Johnson, Eric ;

Steinberg, Gary K. ;

Zabramski, Joseph M. ;

Marchuk, Douglas A. .

HUMAN MOLECULAR GENETICS, 2009, 18 (05) :919-930

[2]

Bayless KJ, 2002, J CELL SCI, V115, P1123

[3] Age-dependent endothelial nitric oxide synthase uncoupling in pulmonary arteries of endoglin heterozygous mice [J].

Belik, J. ;

Jerkic, M. ;

McIntyre, B. A. S. ;

Pan, J. ;

Leen, J. ;

Yu, L. X. ;

Henkelman, R. M. ;

Toporsian, M. ;

Letarte, M. .

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY, 2009, 297 (06) :L1170-L1178

[4] Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations [J].

Bergametti, F ;

Denier, C ;

Labauge, P ;

Arnoult, M ;

Boetto, S ;

Clanet, M ;

Coubes, P ;

Echenne, B ;

Ibrahim, R ;

Irthum, B ;

Jacquet, G ;

Lonjon, M ;

Moreau, JJ ;

Neau, JP ;

Parker, F ;

Tremoulet, M ;

Tournier-Lasserve, E .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (01) :42-51

[5] Rho Kinase Inhibition Rescues the Endothelial Cell Cerebral Cavernous Malformation Phenotype [J].

Borikova, Asya L. ;

Dibble, Christopher F. ;

Sciaky, Noah ;

Welch, Christopher M. ;

Abell, Amy N. ;

Bencharit, Sompop ;

Johnson, Gary L. .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (16) :11760-11764

[6] Genetic causes of vascular malformations [J].

Brouillard, Pascal ;

Vikkula, Miikka .

HUMAN MOLECULAR GENETICS, 2007, 16 :R140-R149

[7] Familial form of intracranial cavernous angioma: MR imaging findings in 51 families [J].

Brunereau, L ;

Labauge, P ;

Tournier-Lasserve, E ;

Laberge, S ;

Levy, C ;

Houtteville, JP .

RADIOLOGY, 2000, 214 (01) :209-216

[8] Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations [J].

Burkhardt, Jan-Karl ;

Schmidt, Doerthe ;

Schoenauer, Roman ;

Brokopp, Chad ;

Agarkova, Irina ;

Bozinov, Oliver ;

Bertalanffy, Helmut ;

Hoerstrup, Simon P. .

NEUROSURGICAL FOCUS, 2010, 29 (03) :1-7

[9] Wnt/β-catenin signaling in development and disease [J].

Clevers, Hans .

CELL, 2006, 127 (03) :469-480

[10] Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 [J].

Craig, HD ;

Günel, M ;

Cepeda, O ;

Johnson, EW ;

Ptacek, L ;

Steinberg, GK ;

Ogilvy, CS ;

Berg, MJ ;

Crawford, SC ;

Scott, RM ;

Steichen-Gersdorf, E ;

Sabroe, R ;

Kennedy, CTC ;

Mettler, G ;

Beis, MJ ;

Fryer, A ;

Awad, IA ;

Lifton, RP .

HUMAN MOLECULAR GENETICS, 1998, 7 (12) :1851-1858

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