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CURRENT ISSUEJOURNAL OF NEUROSURGICAL SCIENCES

A Journal on Neurosurgery

Indexed/Abstracted in: e-psyche, EMBASE, PubMed/MEDLINE, Neuroscience Citation Index, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,651

Frequency: Quarterly

ISSN 0390-5616

Online ISSN 1827-1855

 

Journal of Neurosurgical Sciences 2015 September;59(3):211-20

CEREBRAL CAVERNOMAS 

    REVIEWS

Genetics of cerebral cavernous malformations: current status and future prospects

Choquet H. 1, Pawlikowska L. 1, 2, Lawton M. T. 1, 3, Kim H. 1, 2, 4

1 Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, CA, USA;
2 Institute for Human Genetics, University of California, San Francisco, CA, USA;
3 Department of Neurological Surgery, University of California, San Francisco, CA, USA;
4 Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, USA

Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and familial patients. We reviewed articles published in PubMed in English prior to March 2015 and provide an update on CCM mutations and the screening strategies used to identify them. Further, we summarize the specific clinical features related to CCM genotypes. As 5% to 15% of familial CCM cases remain genetically unexplained, we also discuss future approaches to expand understanding of the genetic architecture of CCM. Finally, we discuss possible genetic modifiers of CCM disease severity and progression. Understanding the genetic architecture of CCM is essential for an earlier diagnosis of the disease, predictive testing of at-risk patients, and design of targeted medical therapies of which there are currently none available.

language: English


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