A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
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, particula...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2016-07-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000700587&lng=en&tlng=en |
| _version_ | 1811240160178733056 |
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| author | Rubens Paulo Araújo Salomão José Luiz Pedroso Maria Thereza Drumond Gama Lívia Almeida Dutra Ricardo Horta Maciel Clécio Godeiro-Junior Hsin Fen Chien Hélio A. G. Teive Francisco Cardoso Orlando G. P. Barsottini |
| author_facet | Rubens Paulo Araújo Salomão José Luiz Pedroso Maria Thereza Drumond Gama Lívia Almeida Dutra Ricardo Horta Maciel Clécio Godeiro-Junior Hsin Fen Chien Hélio A. G. Teive Francisco Cardoso Orlando G. P. Barsottini |
| author_sort | Rubens Paulo Araújo Salomão |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T13:14:19Z |
| format | Article |
| id | doaj.art-9b32da0ca1794f2183d590331ff2069e |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-04-12T13:14:19Z |
| publishDate | 2016-07-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-9b32da0ca1794f2183d590331ff2069e2022-12-22T03:31:44ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272016-07-0174758759610.1590/0004-282X20160080S0004-282X2016000700587A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imagingRubens Paulo Araújo SalomãoJosé Luiz PedrosoMaria Thereza Drumond GamaLívia Almeida DutraRicardo Horta MacielClécio Godeiro-JuniorHsin Fen ChienHélio A. G. TeiveFrancisco CardosoOrlando G. P. BarsottiniABSTRACT 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000700587&lng=en&tlng=enNeurodegeneração com acúmulo cerebral de ferroNBIAsinais clínicosneuroimagemgenética |
| spellingShingle | Rubens Paulo Araújo Salomão José Luiz Pedroso Maria Thereza Drumond Gama Lívia Almeida Dutra Ricardo Horta Maciel Clécio Godeiro-Junior Hsin Fen Chien Hélio A. G. Teive Francisco Cardoso Orlando G. P. Barsottini A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging Arquivos de Neuro-Psiquiatria Neurodegeneração com acúmulo cerebral de ferro NBIA sinais clínicos neuroimagem genética |
| title | 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_short | A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging |
| title_sort | diagnostic approach for neurodegeneration with brain iron accumulation clinical features genetics and brain imaging |
| topic | Neurodegeneração com acúmulo cerebral de ferro NBIA sinais clínicos neuroimagem genética |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000700587&lng=en&tlng=en |
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