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.
Item Type: | Journal article |
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Faculties: | Medicine |
Subjects: | 600 Technology > 610 Medicine and health |
ISSN: | 1528-4042 |
Language: | English |
Item ID: | 46373 |
Date Deposited: | 27. Apr 2018, 08:10 |
Last Modified: | 04. Nov 2020, 13:23 |