A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

Detalhes bibliográficos
Autor(a) principal: Salomão,Rubens Paulo Araújo
Data de Publicação: 2016
Outros Autores: Pedroso,José Luiz, Gama,Maria Thereza Drumond, Dutra,Lívia Almeida, Maciel,Ricardo Horta, Godeiro-Junior,Clécio, Chien,Hsin Fen, Teive,Hélio A. G., Cardoso,Francisco, Barsottini,Orlando G. P.
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=S0004-282X2016000700587
Resumo: ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
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spelling A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imagingneurodegeneration with brain iron accumulationNBIAclinical featuresbrain imaginggeneticsABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.Academia Brasileira de Neurologia - ABNEURO2016-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000700587Arquivos de Neuro-Psiquiatria v.74 n.7 2016reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20160080info:eu-repo/semantics/openAccessSalomão,Rubens Paulo AraújoPedroso,José LuizGama,Maria Thereza DrumondDutra,Lívia AlmeidaMaciel,Ricardo HortaGodeiro-Junior,ClécioChien,Hsin FenTeive,Hélio A. G.Cardoso,FranciscoBarsottini,Orlando G. P.eng2016-07-25T00:00:00Zoai:scielo:S0004-282X2016000700587Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2016-07-25T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
title A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
spellingShingle A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
Salomão,Rubens Paulo Araújo
neurodegeneration with brain iron accumulation
NBIA
clinical features
brain imaging
genetics
title_short A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
title_full A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
title_fullStr A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
title_full_unstemmed A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
title_sort A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
author Salomão,Rubens Paulo Araújo
author_facet Salomão,Rubens Paulo Araújo
Pedroso,José Luiz
Gama,Maria Thereza Drumond
Dutra,Lívia Almeida
Maciel,Ricardo Horta
Godeiro-Junior,Clécio
Chien,Hsin Fen
Teive,Hélio A. G.
Cardoso,Francisco
Barsottini,Orlando G. P.
author_role author
author2 Pedroso,José Luiz
Gama,Maria Thereza Drumond
Dutra,Lívia Almeida
Maciel,Ricardo Horta
Godeiro-Junior,Clécio
Chien,Hsin Fen
Teive,Hélio A. G.
Cardoso,Francisco
Barsottini,Orlando G. P.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Salomão,Rubens Paulo Araújo
Pedroso,José Luiz
Gama,Maria Thereza Drumond
Dutra,Lívia Almeida
Maciel,Ricardo Horta
Godeiro-Junior,Clécio
Chien,Hsin Fen
Teive,Hélio A. G.
Cardoso,Francisco
Barsottini,Orlando G. P.
dc.subject.por.fl_str_mv neurodegeneration with brain iron accumulation
NBIA
clinical features
brain imaging
genetics
topic neurodegeneration with brain iron accumulation
NBIA
clinical features
brain imaging
genetics
description ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
publishDate 2016
dc.date.none.fl_str_mv 2016-07-01
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=S0004-282X2016000700587
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000700587
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/0004-282X20160080
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.74 n.7 2016
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
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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