CADASIL: case report

Detalhes bibliográficos
Autor(a) principal: Silva,Julio Cesar Vasconcelos da
Data de Publicação: 2012
Outros Autores: Gasparetto,Emerson L., Engelhardt,Eliasz
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Dementia & Neuropsychologia
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642012000300188
Resumo: ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.
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spelling CADASIL: case reportCADASILNotch3cognitionneuropsychologyABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento2012-09-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642012000300188Dementia & Neuropsychologia v.6 n.3 2012reponame:Dementia & Neuropsychologiainstname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)instacron:ANCC10.1590/S1980-57642012DN06030013info:eu-repo/semantics/openAccessSilva,Julio Cesar Vasconcelos daGasparetto,Emerson L.Engelhardt,Eliaszeng2016-07-18T00:00:00Zoai:scielo:S1980-57642012000300188Revistahttp://www.demneuropsy.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||demneuropsy@uol.com.br1980-57641980-5764opendoar:2016-07-18T00:00Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)false
dc.title.none.fl_str_mv CADASIL: case report
title CADASIL: case report
spellingShingle CADASIL: case report
Silva,Julio Cesar Vasconcelos da
CADASIL
Notch3
cognition
neuropsychology
title_short CADASIL: case report
title_full CADASIL: case report
title_fullStr CADASIL: case report
title_full_unstemmed CADASIL: case report
title_sort CADASIL: case report
author Silva,Julio Cesar Vasconcelos da
author_facet Silva,Julio Cesar Vasconcelos da
Gasparetto,Emerson L.
Engelhardt,Eliasz
author_role author
author2 Gasparetto,Emerson L.
Engelhardt,Eliasz
author2_role author
author
dc.contributor.author.fl_str_mv Silva,Julio Cesar Vasconcelos da
Gasparetto,Emerson L.
Engelhardt,Eliasz
dc.subject.por.fl_str_mv CADASIL
Notch3
cognition
neuropsychology
topic CADASIL
Notch3
cognition
neuropsychology
description ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.
publishDate 2012
dc.date.none.fl_str_mv 2012-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642012000300188
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642012000300188
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1980-57642012DN06030013
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, Departamento de Neurologia Cognitiva e Envelhecimento
publisher.none.fl_str_mv Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento
dc.source.none.fl_str_mv Dementia & Neuropsychologia v.6 n.3 2012
reponame:Dementia & Neuropsychologia
instname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)
instacron:ANCC
instname_str Associação de Neurologia Cognitiva e do Comportamento (ANCC)
instacron_str ANCC
institution ANCC
reponame_str Dementia & Neuropsychologia
collection Dementia & Neuropsychologia
repository.name.fl_str_mv Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)
repository.mail.fl_str_mv ||demneuropsy@uol.com.br
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