Genetic research advance on neurodegeneration with brain iron accumulation

摘要

Neurodegeneration with brain iron accumulation (NBIA) is a neurodegenerative disorder characterized by abnormal accumulation of iron in central nervous system. Common clinical symptoms in NBIA include different types of dyskinesia, pyramidal tract involvement, cerebellar ataxia, peripheral neuropathy, autonomic neuropathy, cognitive impairment and visual dysfunction. So far, 10 genes have been identified as the causative gene for NBIA subtypes, which are PANK2, COASY, PLA2G6, C19orf12, FA2H, WDR45, ATP13A2, FTL, CP and DCAF17. The pathogenesis of NBIA involves mitochondrial involvement, oxidative stress damage, lipid metabolism and autophagy. Furthermore, NBIA may share the same pathogenetic mechanism with some other neurodegenerative disorders, such as Parkinson's disease (PD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). DOI: 10.3969/j.issn.1672-6731.2017.07.004