CADASIL: pathogenesis, clinical and radiological findings and treatment

Detalhes bibliográficos
Autor(a) principal: André,Charles
Data de Publicação: 2010
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200026
Resumo: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thouroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL.
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spelling CADASIL: pathogenesis, clinical and radiological findings and treatmentCADASILetiologygeneticsdiagnosistherapeuticsCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thouroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL.Academia Brasileira de Neurologia - ABNEURO2010-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200026Arquivos de Neuro-Psiquiatria v.68 n.2 2010reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2010000200026info:eu-repo/semantics/openAccessAndré,Charleseng2010-04-28T00:00:00Zoai:scielo:S0004-282X2010000200026Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2010-04-28T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv CADASIL: pathogenesis, clinical and radiological findings and treatment
title CADASIL: pathogenesis, clinical and radiological findings and treatment
spellingShingle CADASIL: pathogenesis, clinical and radiological findings and treatment
André,Charles
CADASIL
etiology
genetics
diagnosis
therapeutics
title_short CADASIL: pathogenesis, clinical and radiological findings and treatment
title_full CADASIL: pathogenesis, clinical and radiological findings and treatment
title_fullStr CADASIL: pathogenesis, clinical and radiological findings and treatment
title_full_unstemmed CADASIL: pathogenesis, clinical and radiological findings and treatment
title_sort CADASIL: pathogenesis, clinical and radiological findings and treatment
author André,Charles
author_facet André,Charles
author_role author
dc.contributor.author.fl_str_mv André,Charles
dc.subject.por.fl_str_mv CADASIL
etiology
genetics
diagnosis
therapeutics
topic CADASIL
etiology
genetics
diagnosis
therapeutics
description Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thouroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL.
publishDate 2010
dc.date.none.fl_str_mv 2010-04-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200026
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2010000200026
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2010000200026
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.68 n.2 2010
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
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instname_str Academia Brasileira de Neurologia
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institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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