title: 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, 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.
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
authors.forename: Rubens Paulo Araújo
authors.initials: RP
authors.lastname: Salomão
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
authors.forename: Maria Thereza Drumond
authors.initials: MT
authors.lastname: Gama
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
authors.forename: Lívia Almeida
authors.initials: LA
authors.lastname: Dutra
authors.affiliation: Universidade Federal de Minas Gerais, Clínica de Desordens do Movimento, Departmento de Neurologia, Belo Horizonte MG, Brasil;
authors.forename: Ricardo Horta
authors.initials: RH
authors.lastname: Maciel
authors.affiliation: Universidade Federal do Rio Grande do Norte, Unidade de Transtornos do Movimento, Departamento de Medicina Integrada, Natal RN, Brasil;
authors.forename: Clécio
authors.initials: C
authors.lastname: Godeiro-Junior
authors.affiliation: Universidade de São Paulo, Instituto de Ortopedia e Traumatologia, São Paulo SP, Brasil;
authors.forename: Hsin Fen
authors.initials: HF
authors.lastname: Chien
authors.affiliation: Universidade Federal do Paraná, Hospital de Clínicas, Unidade de Desordens do Movimento, Curitiba PR, Brasil.
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
authors.affiliation: Universidade Federal de Minas Gerais, Clínica de Desordens do Movimento, Departmento de Neurologia, Belo Horizonte MG, Brasil;
authors.forename: Francisco
authors.initials: F
authors.lastname: Cardoso
authors.affiliation: Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;
authors.forename: Orlando G P
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000505:Alopecia / Q000000981:diagnostic imaging / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000000981:diagnostic imaging / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D002570:Ceruloplasmin / Q000172:deficiency / Q000235:genetics; D003066:Coenzyme A Ligases / Q000235:genetics; D003920:Diabetes Mellitus / Q000000981:diagnostic imaging / Q000235:genetics; D020271:Heredodegenerative Disorders, Nervous System / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000000981:diagnostic imaging / Q000235:genetics; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics; D019189:Iron Metabolism Disorders / Q000000981:diagnostic imaging* / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000000981:diagnostic imaging* / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D059906:Neuroimaging / Q000379:methods*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000000981:diagnostic imaging / Q000235:genetics; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D054467:Phospholipases A2 / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D002570:Ceruloplasmin; D054467:Phospholipases A2; D003066:Coenzyme A Ligases