Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).

摘要: The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group invalidating and progressive rare diseases that share the abnormal in basal ganglia. onset NBIA disorders ranges from infancy to adulthood. Main clinical signs are related extrapyramidal features (dystonia, parkinsonism choreoathetosis), neuropsychiatric abnormalities. Ten forms widely accepted be caused by mutations genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, DCAF17. Nonetheless, many patients remain without conclusive genetic diagnosis, which shows there must additional as yet undiscovered genes. In line this, isolated cases known monogenic disorders, also, new diseases, present phenotypes compatible NBIA, have been described. Several pathways involved syndromes: lipid metabolism, mitochondrial dynamics, autophagy. However, neurodegenerative conditions such dysfunction oxidative stress, given bioenergetics requirements neurons. This review aims describe existing link between classical ten examining their connection impairment well stress neuroinflammation.