Neurodegeneration with brain iron accumulation

Introduction Disruption of iron homeostasis and abnormal deposition of iron in brain structures appear to be common features in neurodegenerative conditions such as Parkinson disease, Alzheimer disease, and Friedreich ataxia. Less common conditions such as pantothenate kinase associated neurodegeneration (PKAN) and infantile neuroaxonal dystrophy (INAD) are also accompanied by iron deposition and have been classified as having neurodegeneration with brain iron accumulation (NBIA). NBIA includes a broad range of phenotypes with age of onset ranging from infancy to adulthood. In spite of the varied clinical presentations, these conditions are all characterized by abnormal deposition of iron in the basal ganglia. While most of these conditions are associated with autosomal recessive inheritance, at least one NBIA disorder is inherited in an autosomal dominant pattern.Of NBIA disorders, the best known is NBIA-1/PKAN, which has been previously known as Hallervorden–Spatz disease (HSD)/Hallervorden–Spatz syndrome (HSS). Because of concerns about the use of brains from Nazi German concentration camps that were knowingly studied by Dr. Julius Hallervorden on the condition that bears his name, most have tried to eliminate the terms HSS or HSD. As for Dr. Hugo Spatz, who was mentor to Hallervorden, the jury is out as to his complicity.