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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(07): 587-596
DOI: 10.1590/0004-282X20160080
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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
Rubens Paulo Araújo Salomão
1   Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
,
José Luiz Pedroso
1   Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
,
Maria Thereza Drumond Gama
1   Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
,
Lívia Almeida Dutra
1   Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
,
Ricardo Horta Maciel
2   Universidade Federal de Minas Gerais, Clínica de Desordens do Movimento, Departmento de Neurologia, Belo Horizonte MG, Brasil;
,
Clécio Godeiro-Junior
3   Universidade Federal do Rio Grande do Norte, Unidade de Transtornos do Movimento, Departamento de Medicina Integrada, Natal RN, Brasil;
,
Hsin Fen Chien
4   Universidade de São Paulo, Instituto de Ortopedia e Traumatologia, São Paulo SP, Brasil;
,
Hélio A. G. Teive
5   Universidade Federal do Paraná, Hospital de Clínicas, Unidade de Desordens do Movimento, Curitiba PR, Brasil.
,
Francisco Cardoso
2   Universidade Federal de Minas Gerais, Clínica de Desordens do Movimento, Departmento de Neurologia, Belo Horizonte MG, Brasil;
,
Orlando G. P. Barsottini
1   Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
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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.

RESUMO

A 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.

neurodegeneration with brain iron accumulation - NBIA - clinical features - brain imaging - genetics
Neurodegeneração com acúmulo cerebral de ferro - NBIA - sinais clínicos - neuroimagem - genética


Publication History

Received: 10 April 2016

Accepted: 26 April 2016

Article published online:
06 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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