This report describes general characteristics of the group of diseases classified as neurodegeneration with brain iron accumulation (NBIA). This is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of NBIA subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Apr. 2016 by FlyBase; FBrf0222196]
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009; pubmed:18981035). [from MIM:234200; 2016.03.29]
Ten NBIA subtypes and their associated genes are recognized. The most frequent subtypes are caused by mutations in PANK2, PLA2G6, and C19orf12. [from Gene Reviews, Neurodegeneration with Brain Iron Accumulation Disorders Overview; 2016.04.01]
MRI of the brain has characteristic appearance consistent with iron deposition in regions of the basal ganglia. Sporadic neurodegenerative disorders, including Alzheimer and Parkinson diseases, also feature brain iron deposition, although not to the degree seen in NBIA. [from http://www.movementdisorders.org/MDS/News/Online-Web-Edition/Archived-Editions/Update-on-Neurodegeneration-with-Brain-Iron-Accumulation-NBIA.htm 2016.04.01]
