Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management

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. METHOD: 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 mutacional 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.

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Main Authors: Domingues,Flávio, Gasparetto,Emerson L., Andrade,Ricardo, Noro,Fabio, Eiras,Antônio, Gault,Judith, Correia,Carlos Eduardo Silva, Souza,Jorge Marcondes de
Format: Digital revista
Language:English
Published: Academia Brasileira de Neurologia - ABNEURO 2008
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2008000600003
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spelling oai:scielo:S0004-282X20080006000032008-12-10Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for managementDomingues,FlávioGasparetto,Emerson L.Andrade,RicardoNoro,FabioEiras,AntônioGault,JudithCorreia,Carlos Eduardo SilvaSouza,Jorge Marcondes de genetics mutation vascular malformation cavernous malformation cavernoma 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. METHOD: 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 mutacional 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.66 n.4 20082008-12-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2008000600003en10.1590/S0004-282X2008000600003
institution SCIELO
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country Brasil
countrycode BR
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libraryname SciELO
language English
format Digital
author Domingues,Flávio
Gasparetto,Emerson L.
Andrade,Ricardo
Noro,Fabio
Eiras,Antônio
Gault,Judith
Correia,Carlos Eduardo Silva
Souza,Jorge Marcondes de
spellingShingle Domingues,Flávio
Gasparetto,Emerson L.
Andrade,Ricardo
Noro,Fabio
Eiras,Antônio
Gault,Judith
Correia,Carlos Eduardo Silva
Souza,Jorge Marcondes de
Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management
author_facet Domingues,Flávio
Gasparetto,Emerson L.
Andrade,Ricardo
Noro,Fabio
Eiras,Antônio
Gault,Judith
Correia,Carlos Eduardo Silva
Souza,Jorge Marcondes de
author_sort Domingues,Flávio
title Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management
title_short Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management
title_full Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management
title_fullStr Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management
title_full_unstemmed Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management
title_sort familial cerebral cavernous malformations: rio de janeiro study and review of the recommendations for management
description 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. METHOD: 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 mutacional 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.
publisher Academia Brasileira de Neurologia - ABNEURO
publishDate 2008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2008000600003
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