Cavernous malformations: A review and current controversies

Neurosurgery Quarterly

Volumn 16, Issue 1, 2006, Pages 15-23

  Conway, James E ^a   Rigamonti, Daniele ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Angioma; Cavernous; Malformation; Vascular

Indexed keywords

ANTICONVULSIVE AGENT; GENE PRODUCT; PROTEIN CCM1; PROTEIN CCM2; PROTEIN CCM3; PROTEIN KR1T1; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; BRAIN HEMORRHAGE; CAVERNOUS HEMANGIOMA; CHROMOSOME 3Q; CHROMOSOME 7P; CLINICAL FEATURE; CONSERVATIVE TREATMENT; DRUG TREATMENT FAILURE; FAMILY HISTORY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HEADACHE; HISTORY; HUMAN; MICROVASCULATURE; MOLECULAR DYNAMICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PRIORITY JOURNAL; RADIOLOGY; REVIEW; RISK FACTOR; SEIZURE; SEX RATIO; SPINE MALFORMATION;

EID: 33749327290     PISSN: 10506438     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wnq.0000203021.93797.a4     Document Type: Review

References (74)

1. McCormick W. The pathology of vascular ("arteriovenous") malformations. J Neurosurg. 1966;24:807-816.
2. Robinson JR, Awad IA, Little JR. Natural history of the cavernous angioma. J Neurosurg. 1991;75:709-714.
3. Pozzati E, Acciari AN, Tognetti F, et al. Growth, subsequent bleeding, and de novo appearance of cerebral cavernous angiomas. Neurosurgery. 1996;38:662-669.
4. Porter PJ, Wilinski RA, Harper W, et al. Cerebral cavernous malformations: natural history and prognosis after clinical deterioration with or without hemorrhage. J Neurosurg. 1997;87: 190-197.
5. Moriarity JL, Wetzel M, Clatterbuck RE, et al. The natural history of cavernous malformations: a prospective study of 68 patients. Neurosurgery. 1999;44:1166-1171.
6. Moriarity JL, Clatterbuck RE, Rigamonti D. The natural history of cavernous malformations. Neurosurg Clin N Am. 1999;10:411-417.
7. Rigamonti D, Sraver BP, Johnson PC, et al. The mri appearance of cavernous malformations (angiomas). J Neurosurg. 1987;67: 518-524.
8. Zabramski JM, Wascher TM, Spetzler RF, et al. The natural history of familial cavernous malformations: results of an ongoing study. J Neurosurg. 1994;80:422-432.
9. Clatterbuck RE, Eberhart CG, Crain BJ, et al. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry. 2001;71:188-192.
10. Gunel M, Awad IA, Finberg K, et al. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery. 1996;38: 1265-1271.
11. Laberge-le Couteulx S, Jung HH, Labauge P, et al. Truncating mutations in ccm1, encoding krit1, cause hereditary cavernous angiomas. Nat Genet. 1999;23:189-193.
12. Liquori CL, Berg MJ, Siegel AM, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003;73:1459-1464.
13. Verlaan DJ, Laurent SB, Rochefort DL, et al. CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Ann Neurol. 2004;55:757-758.
14. Bergametti F, Denier C, Labauge P, et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005;76:42-51.
15. Russell DS, Rubenstein LJ. Pathology of Tumors of the Nervous System. Baltimore, MD: Williams and Wilkins; 1989.
16. Robinson JR Jr, Awad IA, Masaryk TJ, et al. Pathological heterogeneity of angiographically occult vascular malformations of the brain. Neurosurgery. 1993;33:547-554.
17. Tomlinson FH, Houser OW, Scheithauer BW, et al. Angiographically occult vascular malformations: a correlative study of features on magnetic resonance imaging and histological examination. Neurosurgery. 1994;34:792-799.
18. Vanefsky MA, Cheng ML, Chang SD, et al. Correlation of magnetic resonance characteristics and histopathological type of angiographically occult vascular malformations. Neurosurgery. 1999;44: 1174-1180.
19. Rigamonti D, Johnson PC, Spetzler RF, et al. Cavernous malformations and capillary telangiectasia: a spectrum within a single pathological entity. Neurosurgery. 1991;28:60-64.
20. Wong JH, Awad IA, Kim JH. Ultrastructural pathological features of cerebrovascular malformations: a preliminary report. Neurosurgery. 2000;46:1454-1459.
21. Pardridge W. Blood-brain barrier biology and methodology. J Neurovirol. 1999;5:556-569.
22. Kniesel U, Wolburg H. Tight junctions of the blood-brain barrier. Cell Mol Neurobiol. 2000;20:57-76.
23. McCormick W. Pathology of vascular malformations of the brain. In: Wilson CBSB, ed. Intracranial Arteriovenous Malformations. Baltimore: Williams and Wilkins; 1984:44-63.
24. Sarwar M, McCormick WF. Intracerebral venous angioma. Case report and review. Arch Neurol. 1978;35:323-325.
25. Otten P, Pizzolato GP, Rilliet B, et al. 131 cases of cavernous angioma (cavernomas) of the cns, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie. 1989;35:82-83.
26. Del Curling O Jr, Kelly DL, Elster AD, et al. An analysis of the natural history of cavernous angiomas. J Neurosurg. 1991;75: 702-708.
27. Harrison MJ, Eisenberg MB, Ullman JS, et al. Symptomatic cavernous malformations affecting the spine and spinal cord. Neurosurgery. 1995;37:195-204.
28. Vishteh AG, Sankhala S, Anson JA, et al. Surgical resection of intramedullary spinal cord cavernous malformations: delayed complications, long-term outcomes, and association with cryptic venous malformations. Neurosurgery. 1997;41:1094-1100.
29. Vishteh AG, Zabramski JM, Spetzler RF. Patients with spinal cord cavernous malformations are at an increased risk for multiple neuraxis cavernous malformations. Neurosurgery. 1999;45: 30-32.
30. Aiba T, Tanaka R, Koike T, et al. Natural history of intracranial cavernous malformations. J Neurosurg. 1995;83:56-59.
31. Appiah GA, Knuckey NW, Robbins PD. Extradural spinal cavernous haemangioma: case report and review of the literature. J Clin Neurosci. 2001;8:176-179.
32. Nagib MG, O'Fallon MT. Intramedullary cavernous angiomas of the spinal cord in the pediatric age group: a pediatric series. Pediatr Neurosurg. 2002;36:57-63.
33. Rigamonti D, Pappas CT, Spetzler RF, et al. Extracerebral cavernous angiomas of the middle fossa. Neurosurgery. 1990;27: 306-310.
34. Gliemroth J, Missler U, Sepehrnia A. Cavernous angioma as a rare neuroradiologic finding in the cavernous sinus. J Clin Neurosci. 2000;7:554-557.
35. Vishteh AG, Nadkarni T, Spetzler RF. Cavernous malformation of the pineal region: short report and review of the literature. Br J Neurosurg. 2000;14:147-151.
36. Kobayashi S, Kamagata M, Nakamura M, et al. Pineal apoplexy due to massive hemorrhage associated with cavernous angioma: case report. Surg Neurol. 2001;55:365-371.
37. Li KW, Haroun RI, Clatterbuck RE, et al. Superficial siderosis associated with multiple cavernous malformations: report of three cases. Neurosurgery. 2001;48:1147-1150.
38. Kidd HA, Cummings JN. Cerebral angiomata in an icelandic family. Lancer. 1947;1:747-748.
39. Bicknell JM, Carlow TJ, Kornfeld M, et al. Familial cavernous angiomas. Arch Neurol. 1978;35:746-749.
40. Hayman LA, Evans RA, Ferrell RE, et al. Familial cavernous angiomas: natural history and genetic study over a 5-year period. Am J Med Genet. 1982;11:147-160.
41. Rigamonti D, Hadley MN, Drayer BP, et al. Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med. 1988;319:343-347.
42. Gunel M, Awad IA, Anson J, et al. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA. 1995;92:6620-6624.
43. Gunel M, Awad IA, Finberg K, et al. A founder mutation as a cause of cerebral cavernous malformation in hispanic americans. N Engl J Med. 1996;334:946-951.
44. Polymeropoulos MH, Hurko O, Hsu F, et al. Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of mexican-american descent. Neurology. 1997;48: 752-757.
45. Craig HD, Gunel M, Cepeda O, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998;7: 1851-1858.
46. Denier C, Goutagny S, Labauge P, et al. Mutations within the mgc4607 gene cause cerebral cavernous malformations. Am J Hum Genet. 2004;74:326-337.
47. Zhang J, Clatterbuck RE, Rigamonti D, et al. Mutations in krit1 in familial cerebral cavernous malformations. Neurosurgery. 2000;46: 1272-1277.
48. Lucas M, Costa AF, Montori M, et al. Germline mutations in the ccm1 gene, encoding krit1, cause cerebral cavernous malformations. Ann Neurol. 2001;49:529-532.
49. Verlaan DJ, Davenport WJ, Stefan H, et al. Cerebral cavernous malformations: mutations in krit1. Neurology. 2002;58:853-857.
50. Serebriiskii I, Estojak J, Sonoda G, et al. Association of krev-1/ rap1a with krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene. 1997;15:1043-1049.
51. Sahoo T, Goenaga-Diaz E, Serebriiskii IG, et al. Computational and experimental analyses reveal previously undetected coding exons of the krit1 (ccm1) gene. Genomics. 2001;71:123-126.
52. Zhang J, Clatterbuck RE, Rigamonti D, et al. Cloning of the murine krit1 cdna reveals novel mammalian 50 coding exons. Genomics. 2000;70:392-395.
53. Zhang J, Clatterbuck RE, Rigamonti D, et al. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet. 2001;10:2953-2960.
54. Zawistowski JS, Serebriiskii IG, Lee MF, et al. Krit1 association with the integrin-binding protein icap-1: a new direction in the elucidation of cerebral cavernous malformations (ccm1) pathogenesis. Hum Mol Genet. 2002;11:389-396.
55. Gunel M, Laurans MS, Shin D, et al. Krit1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci USA. 2002;99:10677-10682.
56. Zawistowski JS, Stalheim L, Uhlik MT, et al. Ccm1 and ccm2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005;14: 2521-2531.
57. Busch CR, Heath DD, Hubberstey A. Sensitive genetic biomarkers for determining apoptosis in the brown bullhead (ameiurus nebulosus). Gene. 2004;329:1-10.
58. Casazza M, Broggi G, Franzini A, et al. Supratentorial cavernous angiomas and epileptic seizures: preoperative course and postoperative outcome. Neurosurgery. 1996;39:26-32. Discussion 32-24.
59. Zimmerman RS, Spetzler RF, Lee KS, et al. Cavernous malformations of the brain stem. J Neurosurg. 1991;75:32-39.
60. Fritschi JA, Reulen HJ, Spetzler RF, et al. Cavernous malformations of the brain stem. A review of 139 cases. Acta Neurochir (Wien). 1994;130:35-46.
61. Porter RW, Detwiler PW, Spetzler RF, et al. Cavernous malformations of the brainstem: experience with 100 patients. J Neurosurg. 1999;90:50-58.
62. Steinberg GK, Chang SD, Gewirtz RJ, et al. Microsurgical resection of brainstem, thalamic, and basal ganglia angiographically occult vascular malformations. Neurosurgery. 2000;46:260-270.
63. Mathiesen T, Edner G, Kihlstrom L. Deep and brainstem cavernomas: a consecutive 8-year series. J Neurosurg. 2003;99:31-37.
64. Wang CC, Liu A, Zhang JT, et al. Surgical management of brainstem cavernous malformations: report of 137 cases. Surg Neurol. 2003;59:444-454. Discussion 454.
65. Pollock BE, Garces YI, Stafford SL, et al. Stereotactic radiosurgery for cavernous malformations. J Neurosurg. 2000;93:987-991.
66. Zhang N, Pan L, Wang BJ, et al. Gamma knife radiosurgery for cavernous hemangiomas. J Neurosurg. 2000;93:74-77.
67. Regis J, Bartolomei F, Kida Y, et al. Radiosurgery for epilepsy associated with cavernous malformation: retrospective study in 49 patients. Neurosurgery. 2000;47:1091-1097.
68. Hasegawa T, McInerney J, Kondziolka D, et al. Long-term results after stereotactic radiosurgery for patients with cavernous malformations. Neurosurgery. 2002;50:1190-1197.
69. Kondziolka D, Lunsford LD, Flickinger JC, et al. Reduction of hemorrhage risk after stereotactic radiosurgery for cavernous malformations. J Neurosurg. 1995;83:825-831.
70. Karlsson B, Kihlstrom L, Lindquist C, et al. Radiosurgery for cavernous malformations. J Neurosurg. 1998;88:293-297.
71. Mitchell P, Hodgson TJ, Seaman S, et al. Stereotactic radiosurgery and the risk of haemorrhage from cavernous malformations. Br J Neurosurg. 2000;14:96-100.
72. Liu KD, Chung WY, Wu HM, et al. Gamma knife surgery for cavernous hemangiomas: an analysis of 125 patients. J Neurosurg. 2005;102(Suppl):81-86.
73. Liscak R, Vladyka V, Simonova G, et al. Gamma knife surgery of brain cavernous hemangiomas. J Neurosurg. 2005;102(Suppl): 207-213.
74. Kim MS, Pyo SY, Jeong YG, et al. Gamma knife surgery for intracranial cavernous hemangioma. J Neurosurg. 2005;102(Suppl):102-106.