Current concepts and controversies in neurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation (NBIA) encompasses at least 7 genetically distinct disorders, and additional causative genes likely await identification. Recent advances have included the characterization of new genes associated with new subtypes of NBIA and also highlighted the phenotypic heterogeneity of this class of disorders. Herein, we summarize current concepts of NBIA pathogenesis and discuss important gaps in current knowledge, outlining key questions in the field.
Mitochondrial Research Group, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle Upon Tyne, UK.
Michael J
MJ
Keogh
Patrick F
PF
Chinnery
D000818:Animals; D001921:Brain / Q000378:metabolism*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders; D019150:Neuroaxonal Dystrophies / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics
D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor)