title: Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management.
abstract: OBJECTIVE
  Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic profile and the pattern of emergent neuroimaging findings of this particular population besides a review of the updated recommendations for management of familial CCM versus patients harboring sporadic lesions.
  
  
  METHODS
  Four families of our cohort of 9 families were genetically mapped showing mutational profile linked to CCM1. The neuroimaging paradigm was shifted from T2*gradient-echo (GRE) sequence to susceptibility weighting MR phase imaging (SWI).
  
  
  RESULTS
  Only two index cases were subjected to surgery. There was no surgical intervention in any of the kindreds of our entire cohort of 9 families of our Neurovascular Program within seven years of follow-up. The genetic sequencing for mutational profile in four of these families has demonstrated only CCM1 gene affected. Our management of the familial CCM is according to the review of the literature recommendations.
  
  
  CONCLUSIONS
  The Project of Familial Cerebral Cavernous Malformations of Rio de Janeiro detected mutations of the gene CCM1 in the first four families studied. Familial cavernous malformation are to be settled apart from the more common sporadic lesion. A set of recommendations was searched for in the literature in order to deal with these specific patients and kindreds.
authors.affiliation: Service of Neurosurgery, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro RJ, Brazil.
authors.forename: Flávio
authors.initials: F
authors.lastname: Domingues
authors.forename: Emerson L
authors.initials: EL
authors.lastname: Gasparetto
authors.forename: Ricardo
authors.initials: R
authors.lastname: Andrade
authors.forename: Fabio
authors.initials: F
authors.lastname: Noro
authors.forename: Antônio
authors.initials: A
authors.lastname: Eiras
authors.forename: Judith
authors.initials: J
authors.lastname: Gault
authors.forename: Carlos Eduardo Silva
authors.initials: CE
authors.lastname: Correia
authors.forename: Jorge Marcondes
authors.initials: JM
authors.lastname: de Souza
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005190:Family; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000235:genetics* / Q000628:therapy; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins