Abstract
Neurodegeneration with brain iron accumulation (NBIA) includes a heterogeneous group of genetically defined progressive disorders with iron accumulation in the basal ganglia. Current conventional medical or surgical therapeutic options for these disorders remain unsatisfactory and do not prevent the disease to progress to a severe and most disabling condition for the patients. In the last decade, research has been focused on the role of iron in the pathophysiological process of these disorders. The availability of chelating agents with specific properties that have been demonstrated to be effective in other disorders with regional iron accumulation and MR techniques that allow a quantitative assessment of iron have very recently brought an increasing interest in the possible efficacy of chelating agents in NBIA, and preliminary results of pilot trials are now available. This chapter aims to provide an overview of the results of conventional medical and surgical treatments as well as of more innovative therapy in NBIA.
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