A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , , |
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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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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