Mutation prevalence of cerebral cavernous malformation genes in Spanish patients [PDF]
, 2017 [Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries
Delgado-Valverde, Mercedes +9 more
core +1 more source
A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family
Frontiers in Neuroscience, 2021 Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms.
Guoqing Han +5 more
doaj +1 more source
Zebrafish models of cerebrovascular disease [PDF]
, 2014 Perturbations in cerebral blood flow and abnormalities in blood vessel structure are the hallmarks of cerebrovascular disease. While there are many genetic and environmental factors that affect these entities through a heterogeneous group of disease ...
Peterson, Randall T, Walcott, Brian P
core +1 more source
Biomedicines, 2023 Cerebral cavernous malformation (CCM) or cavernoma is a major vascular disease of genetic origin, whose main phenotypes occur in the central nervous system, and is currently devoid of pharmacological therapeutic strategies.
Andrea Perrelli +7 more
doaj +1 more source
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]
, 2010 Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Shantan Reddy +4 more
core +2 more sources
Neurocysticercosis, familial cerebral cavernomas and intracranial calcifications: differential diagnosis for adequate management [PDF]
Arquivos de Neuro-Psiquiatria, 2016 Neurocysticercosis (NCC) is an endemic disease and important public health problem in some areas of the World and epilepsy is the most common neurological manifestation.
Emerson Leandro Gasparetto +5 more
doaj +2 more sources
The familial cerebral cavernous malformation presented with facial paralysis
Dusunen Adam: The Journal of Psychiatry and Neurological SciencesEzgi Erogul
semanticscholar +2 more sources
Cranial nerve cavernous malformations causing trigeminal neuralgia and chiasmal apoplexy: report of 2 cases and review of literature [PDF]
, 2012 Objective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients.
Andrade, Juliana Gabriel Ribeiro de +5 more
core +6 more sources
High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort [PDF]
American Journal of Neuroradiology, 2020 Cavernous malformations occur most often in the brain but can occur in the spinal cord. Small studies of patients with familial cerebral cavernous malformations suggested a prevalence of spinal cord cavernous malformations of 20%-42%. We aimed to review our familial cohort and prospectively estimate the prevalence of spinal cord cavernous malformations.
M.C. Mabray +9 more
openaire +4 more sources
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
Antioxidants, 2022 Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti +6 more
doaj +1 more source