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

Graeni, C; Stepper, F; Sturzenegger, M; Merlo, A; Verlaan, D J; Andermann, F; Baumann, C R; Bonassin, F; Georgiadis, D; Baumgartner, R W; Rouleau, G A; Siegel, A M (2010). Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families. Neurosurgical review, 33(1), pp. 47-51. Berlin: Springer 10.1007/s10143-009-0225-1

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Cavernous malformations (CCMs) are benign, well-circumscribed, and mulberry-like vascular malformations that may be found in the central nervous system in up to 0.5% of the population. Cavernous malformations can be sporadic or inherited. The common symptoms are epilepsy, hemorrhages, focal neurological deficits, and headaches. However, CCMs are often asymptomatic. The familiar form is associated with three gene loci, namely 7q21-q22 (CCM1), 7p13-p15 (CCM2), and 3q25.2-q27 (CCM3) and is inherited as an autosomal dominant trait with incomplete penetrance. The CCM genes are identified as Krit 1 (CCM1), MGC4607 (CCM2), and PDCD10 (CCM3). Here, we present the clinical and genetic features of CCMs in 19 Swiss families. Furthermore, surgical aspects in such families are also discussed.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Sturzenegger, Matthias

ISSN:

0344-5607

Publisher:

Springer

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:08

Last Modified:

17 Mar 2015 19:08

Publisher DOI:

10.1007/s10143-009-0225-1

PubMed ID:

19760287

Web of Science ID:

000271938700015

URI:

https://boris.unibe.ch/id/eprint/385 (FactScience: 197899)

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