neurodegeneration with brain iron accumulation

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neurodegeneration with brain iron accumulation

A group of genetically heterogeneous disorders—the prototypic form of which is Hallervorden-Spatz disease—characterised by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements—e.g., parkinsonism and dystonia.
References in periodicals archive ?
Cortical and cerebellar atrophy is described in certain forms of NBIA. (6), but till now no case is reported with caudate trophy.
The NBIA ordered MJTA to modify its design to bring costs within the budget target and wants JBIC to approve new bidding on the modified design.
However, an NBIA source said mismanagement and the inability of an NBIA evaluation committee, comprising company and government officials, to examine the MJTA design led to overpricing.
Jaroon Janjumrassaeng, president of Thai Contractor Association, said the NBIA should allow more participants to take part in the bid.
A recent study conducted jointly by NBIA, the University of Michigan, Ohio University and the Southern Technology Council proved that business incubation is a vital economic development tool that helps grow new businesses and creates new jobs in a community.
Government changes in the past have deprived the project of management continuity and although loan contracts and NBIA guarantees will ensure progress, there is still a fear that political influence might delay completion.
V., NBIA DISORDERS SOCIETY USA, Koln Fortune, Medtronic, Deutsche Parkinson Vereinigung, Archimedes Pharma, Abott, Bayer, UCB, zur Rose Pharma, TEVA.
The National Business Incubation Association (NBIA, 2011) states that 87 percent of the firms that have graduated from the incubators are still in business, which is pretty satisfying considering that 9 out of 10 startups usually fail.
Pathogenic mutations in the C19orf12 gene result in a rare autosomal recessive condition, mitochondrial membrane protein-associated neurodegeneration (MPAN), (1) part of the type 4 neurodegeneration with brain iron accumulation (NBIA) group of disorders (MIM#614298).
For example, repeat neuroimaging in a patient with jALS identified basal ganglia iron deposition, directing sequencing of genes associated with neurodegeneration with brain accumulation (NBIA) and confirming compound heterozygous mutation of the C19ORF12 gene which encodes a transmembrane mitochondrial protein [136].
Pantothenate kinase-associated neurodegeneration (PKAN) is the most common form of neurodegeneration with brain iron accumulation (NBIA).
Leading partners include Stanford Research Institute, International Association of Science Parks (IASP), Barcelona Science Park, National Business Incubation Association (NBIA), Colorado Springs Technology Incubator, Plug & Play Incubator, Zamil Group--Oxford, and SABIC.