RESUMO

Discovery of genetic abnormalities associated with neurodegeneration with brain iron accumulation (NBIA) has led to use of a genetic-based NBIA classification schema. Most NBIA subtypes demonstrate characteristic imaging abnormalities. While clinical diagnosis of NBIA is difficult, analysis of both clinical findings and characteristic imaging abnormalities allows accurate diagnosis of most of the NBIA subtypes. This article reviews recent updates in the genetic, clinical, and imaging findings of NBIA subtypes and provides a practical step-by-step clinicoradiological algorithm toward clinical diagnosis of different NBIA subtypes.

Assuntos

Predisposição Genética para Doença/genética , Sobrecarga de Ferro/diagnóstico , Sobrecarga de Ferro/genética , Imageamento por Ressonância Magnética/métodos , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/genética , Encéfalo/patologia , Humanos , Aumento da Imagem/métodos