Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51728
Abstract: Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10. However, previous studies paid little attention to analyzing the radiologic features and age‐related… read more here.
Keywords: familial cerebral; age related; disease; related disease ... See more keywords
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
Sign Up to like & getrecommendations! Published in 2020 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2020.04.075
Abstract: Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigation. To… read more here.
Keywords: malformation syndrome; fourth ventricular; malformation; cerebral cavernous ... See more keywords
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2023.1184333
Abstract: Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly. CCMs can be classified as sporadic or familial, with familial cerebral cavernous malformations… read more here.
Keywords: familial cerebral; krit1 ccm1; cerebral cavernous; mutation ... See more keywords