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Iron metabolism in the CNS: implications for neurodegenerative diseases

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NATURE REVIEWS NEUROSCIENCE
卷 14, 期 8, 页码 551-564

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NATURE PUBLISHING GROUP
DOI: 10.1038/nrn3453

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  1. Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Abnormal accumulation of brain iron has been detected in various neurodegenerative diseases, but the contribution of iron overload to pathology remains unclear. In a group of distinctive brain iron overload diseases known as 'neurodegeneration with brain iron accumulation' (NBIA) diseases, nine disease genes have been identified. Brain iron accumulation is observed in the globus pallidus and other brain regions in NBIA diseases, which are often associated with severe dystonia and gait abnormalities. Only two of these diseases, aceruloplasminaemia and neuroferritinopathy, are directly caused by abnormalities in iron metabolism, mainly in astrocytes and neurons, respectively. Understanding the early molecular pathophysiology of these diseases should aid insights into the role of iron and the design of specific therapeutic approaches.

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