Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished by identifying characteristic changes on magnetic resonance imaging (MRI) in combination with clinical findings. However, a significant number of patients with an NBIA disorder confirmed by genetic testing have MRI features that are atypical for their specific disease. The appearance of specific MRI patterns depends on the stage of the disease and the patient's age at evaluation. MRI interpretation can be challenging because of heterogeneously acquired MRI datasets, individual interpreter bias, and lack of quantitative data. Therefore, optimal acquisition and interpretation of MRI data are needed to better define MRI phenotypes in NBIA disorders. The stepwise approach outlined here may help to identify NBIA disorders and delineate the natural course of MRI-identified changes.
Keywords: NBIA; iron; magnetic resonance imaging; neurodegeneration; pattern.
Copyright © 2020 Lee, Yun, Gregory, Hogarth and Hayflick.