Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms

Esther Meyer, Manju A. Kurian, Susan Hayflick

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of progressive disorders with the common feature of excessive iron deposition in the brain. Over the last decade, advances in sequencing technologies have greatly facilitated rapid gene discovery, and several single-gene disorders are now included in this group. Identification of the genetic bases of the NBIA disorders has advanced our understanding of the disease processes caused by reduced coenzyme A synthesis, impaired lipid metabolism, mitochondrial dysfunction, and defective autophagy. The contribution of iron to disease pathophysiology remains uncertain, as does the identity of a putative final common pathway by which the iron accumulates. Ongoing elucidation of the pathogenesis of each NBIA disorder will have significant implications for the identification and design of novel therapies to treat patients with these disorders.

Original languageEnglish (US)
Pages (from-to)257-279
Number of pages23
JournalAnnual Review of Genomics and Human Genetics
Volume16
DOIs
StatePublished - Aug 24 2015

Fingerprint

Iron
Autophagy
Genetic Association Studies
Coenzyme A
Lipid Metabolism
Technology
Brain
Genes
Neurodegeneration with brain iron accumulation (NBIA)
Therapeutics

Keywords

  • BPAN
  • CoA metabolism
  • CoPAN
  • Iron metabolism
  • MPAN
  • NBIA
  • PKAN
  • PLAN

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Biology

Cite this

Neurodegeneration with Brain Iron Accumulation : Genetic Diversity and Pathophysiological Mechanisms. / Meyer, Esther; Kurian, Manju A.; Hayflick, Susan.

In: Annual Review of Genomics and Human Genetics, Vol. 16, 24.08.2015, p. 257-279.

Research output: Contribution to journalArticle

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