Movement disordersNeurodegenerative disease and iron storage in the brainThomas, Madhavia; Jankovic, JosephbAuthor Information aExperimental Therapeutics Branch, Clinical Pharmacology Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA and bParkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA Correspondence to Joseph Jankovic MD, Department of Neurology, Director of Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, 6550 Fannin St. #1801, Houston, TX 77030, USA Tel: + 1 713 798 5998; fax: +1 713 798 6808; e-mail: [email protected] Abbreviations HSS: Hallervorden-Spatz syndrome PANK2: pantothenate kinase-2 FTL: ferritin light chain PKAN: pantothenate kinase-associated neurodegeneration HARP: hypoprebetalipoproteinemia, acanthocytosis, and retinitis pigmentosa with pallidal degeneration NBIA: neurodegeneration with brain iron accumulation MRI: magnetic resonance imaging DMT-1: divalent metal transporter Current Opinion in Neurology: August 2004 - Volume 17 - Issue 4 - p 437-442 doi: 10.1097/01.wco.0000137534.61244.d1 Buy Metrics Abstract Purpose of review Iron is very important for normal regulation of various metabolic pathways. Neurons store iron in the form of ferrous ion or neuromelanin. In specific disorders the axonal transport of iron is impaired, leading to iron deposition which in the presence of reactive oxygen species results in neurodegeneration. Recent findings Recent developments in genetics, including the finding of mutations in the pantothenate kinase gene and ferritin light chain gene, have demonstrated a direct relationship between the presence of a mutation in the iron-regulatory pathways and iron deposition in the brain resulting in neurodegeneration. These two disorders now add to our understanding of the mechanism of disease due to dysfunction of iron-regulatory pathways. In addition to these disorders there may be several other mutations of iron-regulatory genes or related genes that are yet to be found. The animal models of disease have also added value to this area. Summary In this review we provide a summary of recent developments in the field of movement disorders with abnormalities in iron transport, and the current evidence in neurodegenerative disorders such as Parkinson's disease. © 2004 Lippincott Williams & Wilkins, Inc.