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Friedreich Ataxia

  1. Michel Koenig

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006018

eLS

eLS

How to Cite

Koenig, M. 2006. Friedreich Ataxia. eLS. .

Author Information

  1. Institut de Génétique et de Biologie Moleculaire et Cellulaire, Illkirch, France

Publication History

  1. Published Online: 27 JAN 2006

Abstract

Friedreich ataxia is the most common cause of inherited ataxia in Caucasian populations. It affects the spinal cord and the heart, is of autosomal recessive inheritance and is due to the partial deficiency of a mitochondrial protein, frataxin, thought to be involved in the biogenesis of iron–sulfur clusters. The major mutation is a trinucleotide repeat expansion in intron 1 of the frataxin gene, which causes reduced synthesis of the corresponding transcript.

Keywords:

  • Friedreich ataxia;
  • spinal cord;
  • triplet expansion;
  • mitochondria;
  • iron–sulfur clusters