Neurodegeneration with brain iron accumulation

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Overview

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities. NBIA have been associated with genes in synapse and lipid metabolism related pathways.[1]

The group includes the following disorders:

References

  1. Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; Botía, JA; Collingwood, JF; Hardy, J; Milward, EA; Ryten, M; Houlden, H; UK Brain Expression Consortium, (UKBEC) (17 December 2015). "Gene co-expression networks shed light into diseases of brain iron accumulation". Neurobiology of disease. doi:10.1016/j.nbd.2015.12.004. PMID 26707700.



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