Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 15,400-16,200. Furthermore, state-of-the-art molecular genetic analyses of the known iCCM/i loci are described which reach an almost 100% mutation detection rate for familial CCMs if whole genome sequencing is performed for seemingly mutation-negative families. An update on the spectrum of iCCM1/i, iCCM2/i, and iCCM3 /imutations demonstrates that deep-intronic mutations and submicroscopic copy-number neutral genomic rearrangements are rarei. /iFinally, this review points to current guidelines on genetic counselling, neuroimaging, medical as well as neurosurgical treatment and highlights the formation of active patient organizations in various countries.
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