Neurodegeneration with Brain Iron Accumulation

Abstract

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of progressive extrapyramidal disorders which are characterized by the accumulation of brain iron. The term NBIA is now widely used in the medical literature and is sufficiently broad to encompass the spectrum of disorders previously called Hallervorden-Spatz disease as well as other disorders causing elevated levels of brain iron such as neuroaxonal dystrophy, neuroferritinopathy, and aceruloplasminemia.The major form of NBIA is pantothenate kinase–associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, which is caused by mutations in the PANK2 gene. PKAN accounts for approximately 50% of cases of NBIA. Aceruloplasminemia, caused by mutations in the CP gene, and neuroferritinopathy, caused by mutations in the FTL gene, make up a small proportion of other cases of NBIA.KeywordsAttention Deficit Hyperactivity DisorderCervical DystoniaRetinal DegenerationBrain IronNeurodegeneration With Brain Iron AccumulationThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.