title: PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.
abstract: There is a wide variety of genetic and sporadic causes for neurodegenerative disorders with apparent brain iron accumulation on magnetic resonance imaging. Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H. A variety of sporadic neurological disorders can present brain iron accumulation on imaging, including multiple sclerosis and neurological manifestations of HIV infection. The relevant clinical and imaging features will be discussed.
authors.affiliation: Department of Clinical Neurosciences, UCL Institute of Neurology, Upper Level 3, UCL Medical School, Royal Free Hospital, Pond Street, NW3 2PF, UK. alisdair.mcneill@ucl.ac.uk
authors.forename: Alisdair
authors.initials: A
authors.lastname: McNeill
mesh_terms: D001921:Brain / Q000378:metabolism*; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics*
chemical_list: D007501:Iron; D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human