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

Godeiro Junior, Clécio de OliveiraSalomão, Rubens Paulo AraújoPedroso, José LuizGama, Maria Thereza DrumondMaciel, Ricardo HortaChien, Hsin FenTeive, Hélio A. G.Cardoso, FranciscoBarsottini, Orlando G. P.2023-07-052023-07-052016-04-26GODEIRO 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.https://repositorio.ufrn.br/handle/123456789/53066Neurodegeneration 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.Attribution 3.0 Brazilhttp://creativecommons.org/licenses/by/3.0/br/neurodegeneration with brain iron accumulationclinical featuresNBIAbrain imaginggeneticsneurodegeneração com acúmulo cerebral de ferrosinais clínicosneuroimagemgenéticaA diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imagingUma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagemarticlehttps://doi.org/10.1590/0004-282X20160080