title: Neurodegeneration with Brain Iron Accumulation.
abstract: Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of neurodegenerative disorders characterized by abnormalities in brain iron metabolism with excess iron accumulation in the globus pallidus and to a lesser degree in the substantia nigra and sometimes adjacent areas. They clinically present as neurodegenerative diseases with progressive hypo- and/or hyperkinetic movement disorders and a variable degree of pyramidal, cerebellar, peripheral nerve, autonomic, cognitive and psychiatric involvement, and visual dysfunction. Several causative genes underlying NBIA have been identified which explain about 65% of cases. Pathophysiologically, many of the NBIA syndromes map into related biochemical pathways and gene networks including mitochondrial pathways, lipid metabolism, and autophagy. Treatment for NBIA disorders remains symptomatic but a placebo-controlled double-blind study is underway. Rapid developments prompted the review of this interesting field.
authors.affiliation: Department of Neurology, Ludwig-Maximilians-Universität, University of Munich, Marchioninistraße 15, 81377, München, Germany. s.schneider@neurologie.uni-kiel.de.|Department of Neurology, University of Kiel, Kiel, Germany. s.schneider@neurologie.uni-kiel.de.
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
mesh_terms: D001921:Brain / Q000378:metabolism*; D003937:Diagnosis, Differential; D006801:Humans; D007501:Iron / Q000378:metabolism*; D050356:Lipid Metabolism; D008928:Mitochondria / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*
chemical_list: D007501:Iron
keywords: Basal ganglia; Dystonia; Hallervorden-Spatz; Iron accumulation; PKAN; Pallidum