Summary
Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterised by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis) and iron accumulation in the brain, primarily in the basal ganglia. An estimated prevalence of 1-3/1,000,000 has been suggested based on observed cases in a population. The disease is transmitted as an autosomal recessive trait. Since the recent discovery of the major genetic defect causing NBIA, this heterogeneous group of disorders can now be differentiated by clinical, radiographic, and molecular features. Brain MRI is standard in the diagnostic evaluation of all forms of NBIA. Approximately half of the patients given a clinical diagnosis of NBIA are found to have identifiable mutations in the PANK2 gene, which causes pantothenate kinase-associated neurodegeneration, or PKAN. At this time most treatments for NBIA are palliative. Research is currently underway to identify additional NBIA genes and improve treatment possibilities by characterizing the underlying causes of these disorders. *Authors: Drs A.M. Gregory and S.J. Hayflick (September 2004)*.
