No CCM2 mutations in a cohort of 31 sporadic cases
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Cerebral cavernous malformation (CCM; MIM 116860) is a common disorder that is found in 0.1 to 0.5% of the population and represents ∼10 to 20% of cerebral vascular lesions.1 However, symptomatic disease is considerably less common. The lesions, which affect the brain vasculature, are characterized by abnormally enlarged capillary cavities in the brain without intervening normal parenchyma.2 Most often, CCM occurs sporadically, and individuals develop only one malformation. In familial CCM, the disorder is dominantly inherited, and individuals often develop multiple malformations. Symptoms include focal neurologic signs, hemorrhagic strokes, seizures, headaches, or sometimes death.1 Patients are treated conservatively or with surgical resection when lesions cause recurrent hemorrhage or seizures.
Three genetic loci have been defined:3 CCM1 on chromosome 7q21-q22 accounting for 40% of all familial cases, CCM2 on 7p13-p15 accounting for 20%, and CCM3 on 3q25.2-q27 for 40%. Subsequently, the CCM1 gene has been identified and has been shown …
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