Cerebral Cavernous Malformation―Its Genetic and Biological Background Miki Fujimura 1,2 , Teiji Tominaga 2 1Departments of Neurosurgery,Kohnan Hospital 2Department of Neurosurgery Tohoku University Graduate School of Medicine Keyword: cerebral cavernous malformation (CCM) , gene , vascular malformation pp.1271-1274
Published Date 2008/11/1
DOI https://doi.org/10.11477/mf.1416100375
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 Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system that consisit of enlarged vascular channels without intervening normal parenchyma. The CCMs can occur as sporadic or autosomal-dominant inherited condition. Linkage analysis of the familial CCMs has identified three different loci at 7q21.2 (CCM1),7q13 (CCM2),and 3q25.2-q27 (CCM3). The genes at these loci have been identified as Krev1 Interaction Trapped 1; KRIT1 (CCM1),MGC4607; malcavernin (CCM2),and PDCD10 (CCM3),respectively. Recent investigations on these genes suggest that there are interactions between each gene,although the exact pathway of the formation of CCMs is still undetermined. In this review,the authors summarize the currently avaliable knowledge on the molecular events associated with CCMs.

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