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Current Neurology and Neuroscience Reports
Published in: Current Neurology and Neuroscience Reports 1/2016

01-01-2016 | Movement Disorders (S Fox, Section Editor)

Neurodegeneration with Brain Iron Accumulation

Author: Susanne A. Schneider

Published in: Current Neurology and Neuroscience Reports | Issue 1/2016

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Abstract

Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of neurodegenerative disorders characterized by abnormalities in brain iron metabolism with excess iron accumulation in the globus pallidus and to a lesser degree in the substantia nigra and sometimes adjacent areas. They clinically present as neurodegenerative diseases with progressive hypo- and/or hyperkinetic movement disorders and a variable degree of pyramidal, cerebellar, peripheral nerve, autonomic, cognitive and psychiatric involvement, and visual dysfunction. Several causative genes underlying NBIA have been identified which explain about 65 % of cases. Pathophysiologically, many of the NBIA syndromes map into related biochemical pathways and gene networks including mitochondrial pathways, lipid metabolism, and autophagy. Treatment for NBIA disorders remains symptomatic but a placebo-controlled double-blind study is underway. Rapid developments prompted the review of this interesting field.
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Metadata
Title
Neurodegeneration with Brain Iron Accumulation
Author
Susanne A. Schneider
Publication date
01-01-2016
Publisher
Springer US
Published in
Current Neurology and Neuroscience Reports / Issue 1/2016
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-015-0608-3

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