Neurodegeneration with brain iron accumulation: A case report

Detalhes bibliográficos
Autor(a) principal: Nassif,Daniel
Data de Publicação: 2016
Outros Autores: Pereira,João Santos, Spitz,Mariana, Capitão,Cláudia, Faria,Alessandra
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Dementia & Neuropsychologia
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000200160
Resumo: ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.
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spelling Neurodegeneration with brain iron accumulation: A case reportPKANNBIAPANK2ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento2016-06-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000200160Dementia & Neuropsychologia v.10 n.2 2016reponame:Dementia & Neuropsychologiainstname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)instacron:ANCC10.1590/S1980-5764-2016DN1002014info:eu-repo/semantics/openAccessNassif,DanielPereira,João SantosSpitz,MarianaCapitão,CláudiaFaria,Alessandraeng2016-06-23T00:00:00Zoai:scielo:S1980-57642016000200160Revistahttp://www.demneuropsy.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||demneuropsy@uol.com.br1980-57641980-5764opendoar:2016-06-23T00:00Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)false
dc.title.none.fl_str_mv Neurodegeneration with brain iron accumulation: A case report
title Neurodegeneration with brain iron accumulation: A case report
spellingShingle Neurodegeneration with brain iron accumulation: A case report
Nassif,Daniel
PKAN
NBIA
PANK2
title_short Neurodegeneration with brain iron accumulation: A case report
title_full Neurodegeneration with brain iron accumulation: A case report
title_fullStr Neurodegeneration with brain iron accumulation: A case report
title_full_unstemmed Neurodegeneration with brain iron accumulation: A case report
title_sort Neurodegeneration with brain iron accumulation: A case report
author Nassif,Daniel
author_facet Nassif,Daniel
Pereira,João Santos
Spitz,Mariana
Capitão,Cláudia
Faria,Alessandra
author_role author
author2 Pereira,João Santos
Spitz,Mariana
Capitão,Cláudia
Faria,Alessandra
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Nassif,Daniel
Pereira,João Santos
Spitz,Mariana
Capitão,Cláudia
Faria,Alessandra
dc.subject.por.fl_str_mv PKAN
NBIA
PANK2
topic PKAN
NBIA
PANK2
description ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.
publishDate 2016
dc.date.none.fl_str_mv 2016-06-01
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=S1980-57642016000200160
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000200160
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1980-5764-2016DN1002014
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.10 n.2 2016
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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