| Autor: |
Salomão RP; Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;, Pedroso JL; Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;, Gama MT; Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;, Dutra LA; Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil;, Maciel RH; Universidade Federal de Minas Gerais, Clínica de Desordens do Movimento, Departmento de Neurologia, Belo Horizonte MG, Brasil;, Godeiro-Junior C; Universidade Federal do Rio Grande do Norte, Unidade de Transtornos do Movimento, Departamento de Medicina Integrada, Natal RN, Brasil;, Chien HF; Universidade de São Paulo, Instituto de Ortopedia e Traumatologia, São Paulo SP, Brasil;, Teive HA; Universidade Federal do Paraná, Hospital de Clínicas, Unidade de Desordens do Movimento, Curitiba PR, Brasil., Cardoso F; Universidade Federal de Minas Gerais, Clínica de Desordens do Movimento, Departmento de Neurologia, Belo Horizonte MG, Brasil;, Barsottini OG; Universidade Federal de São Paulo, Departamento de Neurologia, Divisão de Neurologia Geral, São Paulo SP, Brasil; |
| Abstrakt: |
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. |
