Research & Literature

Increased number of white matter lesions in patients with familial cerebral cavernous malformations.

Golden MJ, Morrison LA, Kim H, Hart BL

AJNR. American journal of neuroradiology 2015; (36(5)):899-903 doi:10.3174/ajnr.A4200.

Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations.

Mao CY, Yang J, Zhang SY, et al.

The International journal of neuroscience 2016; (126(12)):1071-6 doi:10.3109/00207454.2015.1118628.

[Principles and applications of susceptibility weighted imaging].

Kurz FT, Freitag M, Schlemmer HP, et al.

Der Radiologe 2016; (56(2)):124-36 doi:10.1007/s00117-015-0069-3.

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.

Bilo L, Antenora A, Peluso S, et al.

The Journal of dermatology 2016; (43(8)):962-3 doi:10.1111/1346-8138.13317.

Introduction to cerebral cavernous malformation: a brief review.

Kim J

BMB reports 2016; (49(5)):255-62 doi:10.5483/bmbrep.2016.49.5.036.

Quantitative Susceptibility Mapping in Cerebral Cavernous Malformations: Clinical Correlations.

Tan H, Zhang L, Mikati AG, et al.

AJNR. American journal of neuroradiology 2016; (37(7)):1209-15 doi:10.3174/ajnr.A4724.

Accuracy of SWI sequences compared to T2*-weighted gradient echo sequences in the detection of cerebral cavernous malformations in the familial form.

Sparacia G, Speciale C, Banco A, et al.

The neuroradiology journal 2016; (29(5)):326-35 doi:10.1177/1971400916665376.

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.

Yang C, Zhao J, Wu B, et al.

Journal of molecular neuroscience : MN 2017; (61(1)):8-15 doi:10.1007/s12031-016-0836-2.

A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.

Huang WQ, Lu CX, Zhang Y, et al.

Frontiers in aging neuroscience 2016; (8()):220 doi:10.3389/fnagi.2016.00220.

Should we resect peri-lesional hemosiderin deposits when performing lesionectomy in patients with cavernoma-related epilepsy (CRE)?

Dammann P, Schaller C, Sure U

Neurosurgical review 2017; (40(1)):39-43 doi:10.1007/s10143-016-0797-5.

Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition.

Strickland CD, Eberhardt SC, Bartlett MR, et al.

Radiology 2017; (284(2)):443-450 doi:10.1148/radiol.2017161127.

Natural history of cerebral cavernous malformations.

Ene C, Kaul A, Kim L

Handbook of clinical neurology 2017; (143()):227-232 doi:10.1016/B978-0-444-63640-9.00021-7.

Pharmacotherapy for cavernous malformations.

Rudy RF, Du R

Handbook of clinical neurology 2017; (143()):309-316 doi:10.1016/B978-0-444-63640-9.00031-X.

Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage.

Zeineddine HA, Girard R, Cao Y, et al.

Journal of magnetic resonance imaging : JMRI 2018; (47(4)):1133-1138 doi:10.1002/jmri.25831.

Up-regulation of NADPH oxidase-mediated redox signaling contributes to the loss of barrier function in KRIT1 deficient endothelium.

Goitre L, DiStefano PV, Moglia A, et al.

Scientific reports 2017; (7(1)):8296 doi:10.1038/s41598-017-08373-4.

A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation.

Yang C, Wu B, Zhong H, et al.

Clinical neurology and neurosurgery 2018; (164()):44-46 doi:10.1016/j.clineuro.2017.11.005.

The CCM1-CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity.

Lisowska J, Rödel CJ, Manet S, et al.

Journal of cell science 2018; (131(15)) doi:10.1242/jcs.216093.

Is Extended Lesionectomy Needed for Patients with Cerebral Cavernous Malformations Presenting with Epilepsy? A Meta-Analysis.

Shang-Guan HC, Wu ZY, Yao PS, et al.

World neurosurgery 2018; (120()):e984-e990 doi:10.1016/j.wneu.2018.08.208.

Facial Venous Malformations Are Associated with Cerebral Developmental Venous Anomalies.

Brinjikji W, Hilditch CA, Tsang AC, et al.

AJNR. American journal of neuroradiology 2018; (39(11)):2103-2107 doi:10.3174/ajnr.A5811.

Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review.

Chohan MO, Marchiò S, Morrison LA, et al.

JAMA neurology 2019; (76(4)):492-500 doi:10.1001/jamaneurol.2018.3634.

Could propranolol be beneficial in adult cerebral cavernous malformations?

Apra C, Dumot C, Bourdillon P, Pelissou-Guyotat I

Neurosurgical review 2019; (42(2)):403-408 doi:10.1007/s10143-018-01074-0.

Safety and effectiveness of stereotactic laser ablation for epileptogenic cerebral cavernous malformations.

Willie JT, Malcolm JG, Stern MA, et al.

Epilepsia 2019; (60(2)):220-232 doi:10.1111/epi.14634.

Hemorrhage, Seizures, and Dynamic Changes of Familial versus Nonfamilial Cavernous Malformation: Systematic Review and Meta-analysis.

Taslimi S, Ku JC, Modabbernia A, Macdonald RL

World neurosurgery 2019; (126()):241-246 doi:10.1016/j.wneu.2019.02.115.

Surgical resection of cavernous angioma located within eloquent brain areas: International survey of the practical management among 19 specialized centers.

Zanello M, Meyer B, Still M, et al.

Seizure 2019; (69()):31-40 doi:10.1016/j.seizure.2019.03.022.

Endothelial cell clonal expansion in the development of cerebral cavernous malformations.

Malinverno M, Maderna C, Abu Taha A, et al.

Nature communications 2019; (10(1)):2761 doi:10.1038/s41467-019-10707-x.

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.

Fusco C, Copetti M, Mazza T, et al.

Human mutation 2019; (40(11)):e24-e36 doi:10.1002/humu.23851.

Long-term antithrombotic therapy and risk of intracranial haemorrhage from cerebral cavernous malformations: a population-based cohort study, systematic review, and meta-analysis.

Zuurbier SM, Hickman CR, Tolias CS, et al.

The Lancet. Neurology 2019; (18(10)):935-941 doi:10.1016/S1474-4422(19)30231-5.

Noninvasive Structural Imaging of a Retinal Cavernous Hemangioma Using SS-OCTA and Correlation to Previously Reported Histopathology.

Zheng A, Boss J, Rachitskaya AV

Ophthalmic surgery, lasers & imaging retina 2019; (50(11)):e320-e323 doi:10.3928/23258160-20191031-20.

Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease.

Tandberg SR, Bocklage T, Bartlett MR, et al.

AJR. American journal of roentgenology 2020; (214(2)):428-436 doi:10.2214/AJR.19.21492.

Symptomatic Hemorrhage From Cerebral Cavernous Malformations: Evidence from a Cohort Study.

Gomez-Paz S, Maragkos GA, Salem MM, et al.

World neurosurgery 2020; (135()):e477-e487 doi:10.1016/j.wneu.2019.12.035.

Cavernoma of the Right Lateral Ventricle: A Rare Case Report.

Katari UK, Prasanna GV, Gopidesi DT

Asian journal of neurosurgery 2019; (14(4)):1222-1225 doi:10.4103/ajns.AJNS_161_19.

Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.

Manole AK, Forrester VJ, Zlotoff BJ, et al.

American journal of medical genetics. Part A 2020; (182(5)):1066-1072 doi:10.1002/ajmg.a.61519.

Giant intraventricular and paraventricular cavernous malformations with multifocal subependymal cavernous malformations in pediatric patients: Two case reports.

Eng-Chuan S, Kritsaneepaiboon S, Kaewborisutsakul A, Kanjanapradit K

World journal of radiology 2020; (12(2)):10-17 doi:10.4329/wjr.v12.i2.10.

Successful treatment of hemorrhagic brainstem cavernous malformation with hematoma evacuation and postoperative propranolol.

Hoffman JE, Ryan M, Wittenberg B, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(9)):2109-2112 doi:10.1007/s00381-020-04588-5.

Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.

Schwefel K, Spiegler S, Kirchmaier BC, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2020; (34(7)):9018-9033 doi:10.1096/fj.201902888R.

Multislice spiral computed tomography imaging in evaluating hemophilic arthropathy.

Zhang YX, Li MX, Wei SF, et al.

Chinese medical journal 2020; (133(14)):1669-1675 doi:10.1097/CM9.0000000000000876.

Cerebral Cavernous Malformation: What a Practicing Clinician Should Know.

Flemming KD, Lanzino G

Mayo Clinic proceedings 2020; (95(9)):2005-2020 doi:10.1016/j.mayocp.2019.11.005.

Susceptibility weighted imaging at 1.5 Tesla magnetic resonance imaging in dogs: Comparison with T2*-weighted gradient echo sequence and its clinical indications.

Weston P, Morales C, Dunning M, et al.

Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association 2020; (61(5)):566-576 doi:10.1111/vru.12894.

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.

Ishii K, Tozaka N, Tsutsumi S, et al.

Medicine 2020; (99(29)):e19800 doi:10.1097/MD.0000000000019800.

KRIT1 as a possible new player in melanoma aggressiveness.

Ercoli J, Finetti F, Woodby B, et al.

Archives of biochemistry and biophysics 2020; (691()):108483 doi:10.1016/j.abb.2020.108483.

Propranolol Reduces the Development of Lesions and Rescues Barrier Function in Cerebral Cavernous Malformations: A Preclinical Study.

Oldenburg J, Malinverno M, Globisch MA, et al.

Stroke 2021; (52(4)):1418-1427 doi:10.1161/STROKEAHA.120.029676.

Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation.

Weng J, Yang Y, Song D, et al.

American journal of human genetics 2021; (108(5)):942-950 doi:10.1016/j.ajhg.2021.04.005.

Scanxiety: a scoping review about scan-associated anxiety.

Bui KT, Liang R, Kiely BE, et al.

BMJ open 2021; (11(5)):e043215 doi:10.1136/bmjopen-2020-043215.

Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman.

Dzefi-Tettey K, Edzie EKM, Gorleku PN, et al.

Case reports in radiology 2021; (2021()):9974776 doi:10.1155/2021/9974776.

Cerebral Cavernous Malformation: From Mechanism to Therapy.

Snellings DA, Hong CC, Ren AA, et al.

Circulation research 2021; (129(1)):195-215 doi:10.1161/CIRCRESAHA.121.318174.

Surgery for cerebral cavernous malformations: a systematic review and meta-analysis.

Harris L, Poorthuis MHF, Grover P, et al.

Neurosurgical review 2022; (45(1)):231-241 doi:10.1007/s10143-021-01591-5.

Prevalence and severity of scanxiety in people with advanced cancers: a multicentre survey.

Bui KT, Kiely BE, Dhillon HM, et al.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2022; (30(1)):511-519 doi:10.1007/s00520-021-06454-9.

Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations.

Fox CK, Nelson J, McCulloch CE, et al.

Neurology 2021; (97(12)):e1210-e1216 doi:10.1212/WNL.0000000000012569.

Tuberous sclerosis with negative genetic testing and multiple cerebral cavernomas: A new association (Case report).

Arbune AA, Toron BR, Lupescu IC, et al.

Experimental and therapeutic medicine 2021; (22(4)):1183 doi:10.3892/etm.2021.10617.

Natural course of untreated spinal cord cavernous malformations: a follow-up study within the initial 5 years after diagnosis.

Santos AN, Rauschenbach L, Darkwah Oppong M, et al.

Journal of neurosurgery. Spine 2022; (36(6)):1030-1034 doi:10.3171/2021.9.SPINE211052.

KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.

Matarneh B, Cottrell CE, Choi S, et al.

Pediatric dermatology 2022; (39(2)):250-254 doi:10.1111/pde.14900.

Multiple cerebral cavernous malformations: Clinical course of confirmed, assumed and non-familial disease.

Santos AN, Rauschenbach L, Saban D, et al.

European journal of neurology 2022; (29(5)):1427-1434 doi:10.1111/ene.15253.

Will There Be a Seizure? Predicting Seizures in Children (and Adults) with Familial Cerebral Cavernous Malformations.

Joshi C

Epilepsy currents 2022; (22(1)):36-37 doi:10.1177/15357597211069832.

Magnetic Resonance Imaging of Multiple Cerebral and Spinal Cavernous Malformations of a Patient with Dementia and Tetraparesis.

Antonescu F, Butnariu I, Cojocaru FM, et al.

Diagnostics (Basel, Switzerland) 2022; (12(3)) doi:10.3390/diagnostics12030677.

Developmental venous anomalies are a genetic primer for cerebral cavernous malformations.

Snellings DA, Girard R, Lightle R, et al.

Nature cardiovascular research 2022; (1()):246-252 doi:10.1038/s44161-022-00035-7.

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature.

Liu W, Liu M, Lu D, et al.

Frontiers in neurology 2022; (13()):795514 doi:10.3389/fneur.2022.795514.

Spinal involvement in pediatric familial cavernous malformation syndrome.

Geraldo AF, Luis A, Alves CAPF, et al.

Neuroradiology 2022; (64(8)):1671-1679 doi:10.1007/s00234-022-02958-1.

Quality of life and mood assessment in conservatively treated cavernous malformation-related epilepsy.

Rauschenbach L, Bartsch P, Santos AN, et al.

Brain and behavior 2022; (12(6)):e2595 doi:10.1002/brb3.2595.

Editorial for "Segmented 3D Echo Planar Acquisition for Rapid Susceptibility Weighted Imaging: Application to Microhemorrhage Detection in Traumatic Brain Injury".

Gökçe E

Journal of magnetic resonance imaging : JMRI 2022; (56(5)):1536-1537 doi:10.1002/jmri.28327.

Is Location Everything? Regulation of the Endothelial CCM Signaling Complex.

Swamy H, Glading AJ

Frontiers in cardiovascular medicine 2022; (9()):954780 doi:10.3389/fcvm.2022.954780.

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.

Geraldo AF, Alves CAPF, Luis A, et al.

Neuroradiology 2023; (65(2)):401-414 doi:10.1007/s00234-022-03056-y.

Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial.

Lanfranconi S, Scola E, Meessen JMTA, et al.

The Lancet. Neurology 2023; (22(1)):35-44 doi:10.1016/S1474-4422(22)00409-4.

Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.

Kim S, Moon J, Jung KH, et al.

Annals of clinical and translational neurology 2023; (10(3)):373-383 doi:10.1002/acn3.51728.

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation.

Liu Z, Guo K, Hu X, Zhang X

Frontiers in oncology 2023; (13()):1141488 doi:10.3389/fonc.2023.1141488.

Towards a neurocognitive profile in familial cerebral cavernous malformations.

Silva C, Durães J, Lima M, et al.

Acta neurologica Belgica 2024; (124(1)):49-54 doi:10.1007/s13760-023-02314-x.

[Multimodal diagnostics of retinal cavernous hemangioma].

Stoyukhina AS

Vestnik oftalmologii 2023; (139(4)):52-58 doi:10.17116/oftalma202313904152.

Propranolol or Beta-Blockers for Cerebral Cavernous Malformation: a Systematic Review and Meta-analysis of Literature in Both Preclinical and Clinical Studies.

Ikramuddin S, Liu S, Ryan D, et al.

Translational stroke research 2024; (15(6)):1088-1097 doi:10.1007/s12975-023-01199-5.

Contralateral Interhemispheric Transfalcine Approach to the Basal Ganglia.

Kalani MYS

World neurosurgery 2024; (183()):93 doi:10.1016/j.wneu.2023.12.066.

Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

A small frontal lobe cavernoma presenting with headache mimicking migraine and complex focal seizure: A case report.

Adhikari P, Nepali A, Shah A, et al.

Clinical case reports 2024; (12(2)):e8472 doi:10.1002/ccr3.8472.

Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial.

Meessen JMTA, Abete-Fornara G, Zarino B, et al.

Frontiers in neurology 2024; (15()):1338941 doi:10.3389/fneur.2024.1338941.

Infratentorial Cerebral Cavernous Malformation May be a Risk Factor for Symptomatic Bleeding and Precocity of Symptoms: A Multicenter, Propensity Score Matched, Case-Control Study.

Galvão GDF, Filho RC, Cunha AAM, et al.

Current neurovascular research 2024; (21(2)):177-183 doi:10.2174/0115672026304601240307051654.

Clinical course of patients with conservatively managed cerebral cavernous malformations.

Sandmann ACA, Kempeneers MA, van den Berg R, et al.

European stroke journal 2024; (9(3)):667-675 doi:10.1177/23969873241246868.

Medical management and surgery versus medical management alone for symptomatic cerebral cavernous malformation (CARE): a feasibility study and randomised, open, pragmatic, pilot phase trial.

The Lancet. Neurology 2024; (23(6)):565-576 doi:10.1016/S1474-4422(24)00096-6.

Mild Hypoxia Accelerates Cerebral Cavernous Malformation Disease Through CX3CR1-CX3CL1 Signaling.

Frias-Anaya E, Gallego-Gutierrez H, Gongol B, et al.

Arteriosclerosis, thrombosis, and vascular biology 2024; (44(6)):1246-1264 doi:10.1161/ATVBAHA.123.320367.

Cerebral microbleeds: Causes, clinical relevance, and imaging approach - A narrative review.

Agarwal A, Ajmera P, Sharma P, Kanekar S

Journal of neurosciences in rural practice 2024; (15(2)):169-181 doi:10.25259/JNRP_351_2023.

Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.

Dulamea AO, Lupescu IC

Journal of the neurological sciences 2024; (461()):123044 doi:10.1016/j.jns.2024.123044.

Plasma biomarkers in patients with familial cavernous malformation and their first-degree relatives.

Li C, Huang S, Li Q, et al.

Research square 2024; doi:10.21203/rs.3.rs-4545797/v1.

Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.

Galvão GDF, Trefilio LM, Salvio AL, et al.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2024; (33(11)):107947 doi:10.1016/j.jstrokecerebrovasdis.2024.107947.

A renaissance of cerebral cavernous malformation proteins in vascular physiology.

Abdelilah-Seyfried S, Jo H

Nature cardiovascular research 2024; (3(7)):771-773 doi:10.1038/s44161-024-00504-1.

Oscillatory contractile forces refine endothelial cell-cell interactions for continuous lumen formation governed by Heg1/Ccm1.

Yin J, Maggi L, Wiesner C, et al.

Angiogenesis 2024; (27(4)):845-860 doi:10.1007/s10456-024-09945-5.

Cavernous Angioma: A Rare Cause of Multiple Cranial Nerve Palsies.

Karthikeyan Meenakshi K, S M, Sekhar CHN, et al.

Cureus 2024; (16(8)):e67464 doi:10.7759/cureus.67464.

Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.

Hou W, Hou Y, Ren X, Liu J

Annals of neurosciences 2025; 09727531241308346 doi:10.1177/09727531241308346.

Plasma biomarkers in patients with familial cavernous malformation and their first-degree relatives: a cross-sectional study.

Li C, Huang S, Li Q, et al.

Scientific reports 2025; (15(1)):11284 doi:10.1038/s41598-025-91141-6.

Comparative Analysis of the Health-Related Quality of Life Between Patients with Familial and Sporadic Forms of Cerebral Cavernous Malformation.

Cunha AM, da Fontoura Galvão G, Marcondes de Souza J

World neurosurgery 2025; (198()):124023 doi:10.1016/j.wneu.2025.124023.

Association of Quality of Life Domains and Clinical Symptoms in Patients With Familial Cerebral Cavernous Malformation.

Tsang C, Nelson J, Vassar R, et al.

Journal of the American Heart Association 2025; (14(17)):e035926 doi:10.1161/JAHA.124.035926.

Female hormone therapy and risk of intracranial hemorrhage and focal neurological deficits in patients with cavernous malformations of the central nervous system.

Wildi S, Nager S, Staartjes V, et al.

Frontiers in neurology 2025; (16()):1658980 doi:10.3389/fneur.2025.1658980.

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.

Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, et al.

Journal of neurochemistry 2026; (170(1)):e70342 doi:10.1111/jnc.70342.