Neurodegeneration with Brain Iron Accumulation

Curr Neurol Neurosci Rep. 2016 Jan;16(1):9. doi: 10.1007/s11910-015-0608-3.

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.

Keywords: Basal ganglia; Dystonia; Hallervorden-Spatz; Iron accumulation; PKAN; Pallidum.

Publication types

  • Review

MeSH terms

  • Brain / metabolism*
  • Diagnosis, Differential
  • Humans
  • Iron / metabolism*
  • Lipid Metabolism
  • Mitochondria / metabolism
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism*

Substances

  • Iron