Stéphane Lehéricy1,2,3, Emmanuel Roze1,4, Cyril Goizet5,6, Fanny Mochel1,7,8. 1. Paris Brain Institute, Institut du Cerveau et de la Moelle épinière - ICM, INSERM U 1127, CNRS UMR 7225, Sorbonne Université, Team 'Movement Investigations and Therapeutics' (MOV'IT). 2. ICM, Centre de NeuroImagerie de Recherche - CENIR. 3. Department of Neuroradiology, Pitié-Salpêtrière hospital (AP-HP), Paris. 4. Department of Neurology, Pitie-Salpetrire Hospital, Public Assistance - Paris Hospitals (AP-HP), Paris. 5. Reference Center for Rare 'Neurogenetic' Diseases, Department of Medical Genetics, Pellegrin Hospital, Bordeaux University Hospital. 6. Rare Diseases Laboratory: Genetics and Metabolism (MRGM), INSERM U1211, Bordeaux University, Bordeaux, France. 7. Department of Genetics, Pitié -Salpêtrière Hospital, Public Assistance - Paris Hospitals (AP-HP), Paris. 8. Reference Center for Neurometabolic diseases, Pitié -Salpêtrière Hospital, Paris.
Abstract
PURPOSE OF REVIEW: The diagnosis of neurodegeneration with brain iron accumulation (NBIA) typically associates various extrapyramidal and pyramidal features, cognitive and psychiatric symptoms with bilateral hypointensities in the globus pallidus on iron-sensitive magnetic resonance images, reflecting the alteration of iron homeostasis in this area. This article details the contribution of MRI in the diagnosis by summarizing and comparing MRI patterns of the various NBIA subtypes. RECENT FINDINGS: MRI almost always shows characteristic changes combining iron accumulation and additional neuroimaging abnormalities. Iron-sensitive MRI shows iron deposition in the basal ganglia, particularly in bilateral globus pallidus and substantia nigra. Other regions may be affected depending on the NBIA subtypes including the cerebellum and dentate nucleus, the midbrain, the striatum, the thalamus, and the cortex. Atrophy of the cerebellum, brainstem, corpus callosum and cortex, and white matter changes may be associated and worsen with disease duration. Iron deposition can be quantified using R2 or quantitative susceptibility mapping. SUMMARY: Recent MRI advances allow depicting differences between the various subtypes of NBIA, providing a useful analytical framework for clinicians. Standardization of protocols for image acquisition and analysis may help improving the detection of imaging changes associated with NBIA and the quantification of iron deposition.
PURPOSE OF REVIEW: The diagnosis of neurodegeneration with brain iron accumulation (NBIA) typically associates various extrapyramidal and pyramidal features, cognitive and psychiatric symptoms with bilateral hypointensities in the globus pallidus on iron-sensitive magnetic resonance images, reflecting the alteration of iron homeostasis in this area. This article details the contribution of MRI in the diagnosis by summarizing and comparing MRI patterns of the various NBIA subtypes. RECENT FINDINGS: MRI almost always shows characteristic changes combining iron accumulation and additional neuroimaging abnormalities. Iron-sensitive MRI shows iron deposition in the basal ganglia, particularly in bilateral globus pallidus and substantia nigra. Other regions may be affected depending on the NBIA subtypes including the cerebellum and dentate nucleus, the midbrain, the striatum, the thalamus, and the cortex. Atrophy of the cerebellum, brainstem, corpus callosum and cortex, and white matter changes may be associated and worsen with disease duration. Iron deposition can be quantified using R2 or quantitative susceptibility mapping. SUMMARY: Recent MRI advances allow depicting differences between the various subtypes of NBIA, providing a useful analytical framework for clinicians. Standardization of protocols for image acquisition and analysis may help improving the detection of imaging changes associated with NBIA and the quantification of iron deposition.
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