Page 190 - Read Online
P. 190
Padarti et al. Vessel Plus 2018;2:21 I http://dx.doi.org/10.20517/2574-1209.2018.34 Page 17 of 23
DECLARATIONS
Author’s contributions
Akhil Padarti drafted the manuscript under the supervision of Jun Zhang.
Availability of data and materials
Not applicable.
Financial support and sponsorship
None.
Conflicts of interest
Both authors declared that there are no conflicts of interest.
Ethical approval and consent to participate
Not applicable.
Consent for publication
Not applicable.
Copyright
© The Author(s) 2018.
REFERENCES
1. Otten P, Pizzolato GP, Rilliet B, Berney J. 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective
analysis of 24,535 autopsies. Neurochirurgie 1989;35:82-3, 128-31.
2. Cavalcanti DD, Kalani MY, Martirosyan NL, Eales J, Spetzler RF, Preul MC. Cerebral cavernous malformations: from genes to proteins
to disease. J Neurosurg 2012;116:122-32.
3. Fisher OS, Zhang R, Li X, Murphy JW, Demeler B, Boggon TJ. Structural studies of cerebral cavernous malformations 2 (CCM2)
reveal a folded helical domain at its C-terminus. FEBS Lett 2013;587:272-7.
4. Tanriover G, Sozen B, Seker A, Kilic T, Gunel M, Demir N. Ultrastructural analysis of vascular features in cerebral cavernous
malformations. Clin Neurol Neurosurg 2013;115:438-44.
5. Choquet H, Trapani E, Goitre L, Trabalzini L, Akers A, Fontanella M, et al. Cytochrome P450 and matrix metalloproteinase genetic
modifiers of disease severity in Cerebral Cavernous Malformation type 1. Free Radic Biol Med 2016;92:100-9.
6. Trapani E, Retta SF. Cerebral cavernous malformation (CCM) disease: from monogenic forms to genetic susceptibility factors. J
Neurosurg Sci 2015;59:201-9.
7. Gunel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C,
Lifton RP. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 1996;334:946-51.
8. Denier C, Labauge P, Bergametti F, Marchelli F, Riant F, Arnoult M, Maciazek J, Vicaut E, Brunereau L, Tournier-Lasserve E; Société
Française de Neurochirurgie. Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann Neurol 2006;60:550-6.
9. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk
DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat 2006;27:118.
10. Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco
F. Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics
2008;9:25-31.
11. Scimone C, Bramanti P, Alafaci C, Granata F, Piva F, Rinaldi C, Donato L, Greco F, Sidoti A, D’Angelo R. Update on Novel CCM
Gene Mutations in Patients with Cerebral Cavernous Malformations. J Mol Neurosci 2017;61:189-98.
12. Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA. Biallelic somatic and germline mutations in cerebral cavernous
malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet 2009;18:919-30.
13. Pagenstecher A, Stahl S, Sure U, Felbor U. A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of
CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet 2009;18:911-8.
14. Batra S, Lin D, Recinos PF, Zhang J, Rigamonti D. Cavernous malformations: natural history, diagnosis and treatment. Nat Rev Neurol
2009;5:659-70.
15. Zhang J, Basu S, Clatterbuck RE, Rigamonti D, Dietz HC. Pathogenesis of cerebral cavernous malformation: Depletion of Krit1 leads
to perturbation of 1 integrin-mediated endothelial cell mobility and survival. Am J Hum Genet 2004;suppl:S222.