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References
[1.]
N. Revencu, M. Vikkula.
Cerebral cavernous malformation: new molecular and clinical insights.
J Med Genet, 43 (2006), pp. 716-726
[2.]
A. Sempere-Pérez, J. Campistol, A. García-Cazorla, A. Guillén-Quesada, N. Pérez-Muñoz.
Cavernomatosis multiple cerebral familiar.
Rev Neurol, 44 (2007), pp. 657-660
[3.]
J.H. Wong, I.A. Awad, J.H. Jim.
Ultrastructural pathological features of cerebrovascular malformations: a preliminary report.
Neurosurgery, 46 (2000), pp. 1454-1459
[4.]
R.E. Clatterbuck, C.G. Eberhart, B.J. Crain, B. Rigamonti.
Ultrastructural and inmunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations.
J Neurol Neurosurg Psychiatry, 71 (2001), pp. 188-192
[5.]
D. Rigamonti, M.N. Hadley, B.P. Drayer, P.C. Jonson, K. Hoenig-Rigamonti, J.T. Knight.
Cerebral cavernous malformations. Incidence and familial occurrence.
N Engl J Med, 319 (1988), pp. 343-347
[6.]
B. Iza, Mateo or, B. Mosqueira, F. Ruiz, F. Corrillo.
Cavernomas cerebrales. Revisión y actualización etiológica, clínica and terapéutica.
Rev Neurol, 41 (2005), pp. 725-732
[7.]
P. Labauge, C. Denier, F. Bergametti, E. Tournier-Lasserve.
Genetics of cavernous angiomas.
Lancet Neurol, 6 (2007), pp. 237-244
[8.]
D.J. Verlaan, W.J. Davenport, H. Stefan, U. Sure, A.M. Siegel, G.A. Rouleau.
Cerebral cavernous malformations: mutations in Krit1.
Neurology, 58 (2002), pp. 853-857
[9.]
A.G. Knudson.
Mutation and cancer: statistical study of retinoblastoma.
Proc Natl Acad Sci USA, 68 (1971), pp. 820-823
[10.]
P. Reich, J. Winkler, A. Straube, H.J. Steiger, A. Peraud.
Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas.
Neurology, 60 (2003), pp. 1135-1138
[11.]
V. Marini, L. Ferrera, F. Pigatto, P. Origone, C. Garre, A. Dorcaratto.
Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.
Am J Med Genet A, 130A (2004), pp. 98-101
[12.]
M.F. Waters, D.C. Shields, N.A. Martin.
Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation.
Neurology, 65 (2005), pp. 966-967
[13.]
I. Eerola, K.H. Plate, R. Spiegel, L.M. Boon, J.B. Mulliken, M. Vikkula.
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.
Hum Mol Genet, 9 (2000), pp. 1351-1355
[14.]
A. Pagenstecher, S. Stahl, U. Sure, U. Felbor.
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
Hum Mol Genet, 18 (2009), pp. 911-918
This paper was presented in poster format at the 26th Meeting of the Valencian Society of Neurology (El Albir, 2009).
Copyright © 2011. Sociedad Española de Neurología
