A Novel Association between RASA1 Mutations and Spinal Arteriovenous Anomalies

American Journal of Neuroradiology

Volumn 31, Issue 4, 2010, Pages 775-779

  Thiex, R ^a   Mulliken, J B ^a   Revencu, N ^b   Boon, L M ^b,c   Burrows, P E ^d   Cordisco, M ^e   Dwight, Y ^f   Smith, E R ^a   Vikkula, M ^b   Orbach, Darren Benjamin ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DE DUVE INSTITUTE   (Belgium)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^e HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^f KAISER PERMANENTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; RASA1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ADULTHOOD; ARTERIOVENOUS FISTULA; ARTERIOVENOUS MALFORMATION; ARTICLE; BACK; BRAIN ANGIOGRAPHY; CERVICAL SPINE; CHILD; CLINICAL ARTICLE; CONUS MEDULLARIS; FEMALE; FLACCID PARALYSIS; GENE MUTATION; GENETIC ASSOCIATION; HEADACHE; HUMAN; INFANCY; MALE; MICROANGIOPATHY; NEUROGENIC BLADDER; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SENSORIMOTOR NEUROPATHY; SPINAL ANGIOGRAPHY; SPINAL ARTERIOVENOUS FISTULA; SPINAL ARTERIOVENOUS MALFORMATION; THORACIC SPINE;

ADULT; ANGIOGRAPHY; ARTERIOVENOUS MALFORMATIONS; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; COMBINED MODALITY THERAPY; DNA MUTATIONAL ANALYSIS; EMBOLIZATION, THERAPEUTIC; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; GENOTYPE; HEMANGIOMA, CAPILLARY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROSURGERY; NEOPLASMS, MULTIPLE PRIMARY; NEUROLOGIC EXAMINATION; P120 GTPASE ACTIVATING PROTEIN; POSTOPERATIVE COMPLICATIONS; SKIN NEOPLASMS; SPINAL CORD; SPINAL CORD COMPRESSION; YOUNG ADULT;

EID: 77950793271     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A1907     Document Type: Article

References (23)

1. Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation- arteriovenous malformation: a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73:1240-1249 (Pubitemid 38037418)
2. Boon LM, Mulliken JB, Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 2005;15:265-269 (Pubitemid 40726049)
3. Henkemeyer M, Rossi DJ, Holmyard DP, et al. Vascular system defects and neuronal apoptosis in mice lacking Ras GTPase-activating protein. Nature 1995;377:695-701
4. Lapinski PE, Bauler TJ, Brown EJ, et al. Generation of mice with a conditional allele of the p120 Ras GTPase-activating protein. Genesis 2007;45:762-767 (Pubitemid 351158378)
5. Limaye N, Boon LM, Vikkula M. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 2009;18:R65-74
6. Kaplan P, Hollenberg RD, Fraser FC. A spinal arteriovenous malformation with hereditary cutaneous hemangiomas. Am J Dis Child 1976;130:1329-1331 (Pubitemid 8000744)
7. Jacobs AH, Walton RG. The incidence of birthmarks in the neonate. Pediatrics 1976;58:218-222
8. van der Horst CM, van Eijk TGJ, de Borgie CA. Hereditary port-wine stains: do they exist? Lasers Med Sci 1999;14:238-243
9. Revencu N, Boon LM, Mulliken JB, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008;29:959-965 (Pubitemid 351951290)
10. Mandzia JL, terBrugge KG, Faughnan ME, et al. Spinal cord arteriovenous malformations in two patients with hereditary hemorrhagic telangiectasia. Childs Nerv Syst 1999;15:80-83
11. Terdjman P, Aicardi J, Sainte-Rose C, et al. Neuroradiological findings in Sturge-Weber syndrome (SWS) and isolated pial angiomatosis. Neuropediatrics 1991;22:115-120
12. Uram M, Zubillaga C. The cutaneous manifestations of Sturge-Weber syndrome. J Clin Neuroophthalmol 1982;2:245-248
13. Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular malformation syndrome (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome): review of the literature. Surv Ophthalmol 2008;53:227-249 (Pubitemid 351685720)
14. Rogers GF, Mulliken JB, Kozakewich HP. Heterotopic neural nodules of the scalp. Plast Reconstr Surg 2005;115:376-382
15. Enjolras O, Boukobza M, Jdid R. Cervical occult spinal dysraphism: MRI findings and the value of a vascular birthmark. Pediatr Dermatol 1995;12:256-259
16. Doppman JL, Wirth FP Jr, Di Chiro G, et al. Value of cutaneous angiomas in the arteriographic localization of spinal-cord arteriovenous malformations. N Engl J Med 1969;281:1440-1444
17. Jessen RT, Thompson S, Smith EB. Cobb syndrome. Arch Dermatol 1977;113:1587-1590
18. Guggisberg D, Hadj-Rabia S, Viney C, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol 2004;140:1109-1115 (Pubitemid 39223119)
19. Kadoya C, Momota Y, Ikegami Y, et al. Central nervous system arteriovenous malformations with hereditary hemorrhagic telangiectasia: report of a family with three cases. Surg Neurol 1994;42:234-239 (Pubitemid 24329120)
20. Morgan T, McDonald J, Anderson C, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics 2002;109:E12
21. Rodesch G, Hurth M, Alvarez H, et al. Spinal cord intradural arteriovenous fistulae: anatomic, clinical, and therapeutic considerations in a series of 32 consecutive patients seen between 1981 and 2000 with emphasis on endovascular therapy. Neurosurgery 2005;57:973-983
22. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-67 (Pubitemid 30127562)
23. Cullen S, Alvarez H, Rodesch G, et al. Spinal arteriovenous shunts presenting before 2 years of age: analysis of 13 cases. Childs Nerv Syst 2006;22:1103-1110 (Pubitemid 44314483)