Emerging pharmacologic targets in cerebral cavernous malformation and potential strategies to alter the natural history of a difficult disease: a review
MO Chohan, S Marchiò, LA Morrison… - JAMA …, 2019 - jamanetwork.com
Importance Cerebral cavernous malformations (CCMs) are vascular lesions of the brain that
may lead to hemorrhage, seizures, and neurologic deficits. Most are linked to loss-of-
function mutations in 1 of 3 genes, namelyCCM1 (originally calledKRIT1), CCM2
(MGC4607), orCCM3 (PDCD10), that can either occur as sporadic events or are inherited in
an autosomal dominant pattern with incomplete penetrance. Familial forms originate from
germline mutations, often have multiple intracranial lesions that grow in size and number …
may lead to hemorrhage, seizures, and neurologic deficits. Most are linked to loss-of-
function mutations in 1 of 3 genes, namelyCCM1 (originally calledKRIT1), CCM2
(MGC4607), orCCM3 (PDCD10), that can either occur as sporadic events or are inherited in
an autosomal dominant pattern with incomplete penetrance. Familial forms originate from
germline mutations, often have multiple intracranial lesions that grow in size and number …