title: Genetics of neurodegeneration with brain iron accumulation.
abstract: The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.
authors.affiliation: Department of Molecular & Medical Genetics, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Mailcode L103, Portland, OR 97239-3098, USA. gregorya@ohsu.edu
authors.forename: Allison
authors.initials: A
authors.lastname: Gregory
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Hayflick
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism
chemical_list: D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase