The spectrum of phenotypes included in the group of neurodegeneration with brain iron accumulation (NBIA) has been recently growing. It includes the genetically defi ned neurodegeneration associated with mutation in genes PANK2 (PKAN), PLA2G6 (PLAN), FA2H (FAHN), ATP13A2 (Kufor-Rakeb disease), CP (aceruloplasminemia), FTL1 (neuroferritinopathy) and the more recently identifi ed C19orf12 (MPAN), and WDR45 (BPAN). Other genetic causes are still to be identifi ed. The clinical manifestations are highly heterogenic and often overlap among the NBIA group. The core features are characterized by progressive extrapyramidal deterioration and iron accumulation in the basal ganglia. Current therapeutic options include various symptomatic approaches, and new therapies are under consideration such as surgical approaches and chelating agents.
- Neurodegeneration with brain iron accumulation
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