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

Uma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem

dc.contributor0000-0002-4312-1633
dc.creatorGodeiro Junior, Clécio de Oliveira
dc.creatorSalomão, Rubens Paulo Araújo
dc.creatorPedroso, José Luiz
dc.creatorGama, Maria Thereza Drumond
dc.creatorMaciel, Ricardo Horta
dc.creatorChien, Hsin Fen
dc.creatorTeive, Hélio A. G.
dc.creatorCardoso, Francisco
dc.creatorBarsottini, Orlando G. P.
dc.date2023-07-05T19:21:32Z
dc.date2023-07-05T19:21:32Z
dc.date2016-04-26
dc.date.accessioned2023-09-04T12:43:16Z
dc.date.available2023-09-04T12:43:16Z
dc.identifierGODEIRO JUNIOR, Clécio de Oliveira; SALOMÃO, Rubens Paulo Araújo; PEDROSO, José Luiz; GAMA, Maria Thereza Drumond; DUTRA, Lívia Almeida; MACIEL, Ricardo Horta; CHIEN, Hsin Fen; TEIVE, Hélio A. G.; CARDOSO, Francisco; BARSOTTINI, Orlando G. P.. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arquivos de Neuro-Psiquiatria, [S.L.], v. 74, n. 7, p. 587-596, jul. 2016. FapUNIFESP (SciELO). http://dx.doi.org/10.1590/0004-282x20160080. Disponível em: https://www.scielo.br/j/anp/a/pzrv9QcNSQwbtxj67SqD9vw/?lang=en. Acesso em: 5 jul. 2023.
dc.identifierhttps://repositorio.ufrn.br/handle/123456789/53066
dc.identifierhttps://doi.org/10.1590/0004-282X20160080
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8601800
dc.descriptionNeurodegeneration 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.
dc.descriptionA neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.
dc.formatapplication/pdf
dc.languageen
dc.publisherSciELO
dc.rightsAttribution 3.0 Brazil
dc.rightshttp://creativecommons.org/licenses/by/3.0/br/
dc.rightsLOCKSS system has permission to collect, preserve, and serve this Archival Unit
dc.subjectneurodegeneration with brain iron accumulation
dc.subjectclinical features
dc.subjectNBIA
dc.subjectbrain imaging
dc.subjectgenetics
dc.subjectneurodegeneração com acúmulo cerebral de ferro
dc.subjectsinais clínicos
dc.subjectneuroimagem
dc.subjectgenética
dc.titleA diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
dc.titleUma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem
dc.typearticle


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