title: Neurodegenerations with Brain Iron Accumulation.
abstract: Syndromes with Neurodegeneration with Brain Iron Accumulation (NBIA) are a group of neurodegenerative disorders characterized by excess iron mainly in the globus pallidus and sometimes adjacent areas. They clinically present as 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 lipid metabolism. Treatment for NBIA disorders remains symptomatic.
authors: Dept. of Neurology, University of Kiel, Arnold-Heller-Straße, 24105, Kiel, Germany. Electronic address: s.schneider@neurologie.uni-kiel.de.
authors: Susanne A
authors: SA
authors: Schneider
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007501:Iron / 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