Unanswered questions in Friedreich ataxia

J Child Neurol. 2012 Sep;27(9):1223-9. doi: 10.1177/0883073812453498. Epub 2012 Jul 25.

Abstract

During the past 15 years, the pace of research advancement in Friedreich ataxia has been rapid. The abnormal gene has been discovered and its gene product characterized, leading to the development of new evidence-based therapies. Still, various unsettled issues remain that affect clinical trials. These include the level of frataxin deficiency needed to cause disease, the mechanism by which frataxin-deficient mitochondrial dysfunction leads to symptomatology, and the reason selected cells are most affected in Friedreich ataxia. In this review, we summarize these questions and propose testable hypotheses for their resolution.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Frataxin
  • Friedreich Ataxia / etiology*
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / pathology
  • Humans
  • Iron-Binding Proteins / genetics
  • Iron-Binding Proteins / metabolism*
  • Neurons / metabolism
  • Reactive Oxygen Species / metabolism

Substances

  • Iron-Binding Proteins
  • Reactive Oxygen Species