Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2000 Jan;37(1):1-8.
doi: 10.1136/jmg.37.1.1.

Friedreich ataxia: an overview

M B Delatycki  1 , R Williamson, S M Forrest
Affiliations
Review

Friedreich ataxia: an overview

M B Delatycki et al. J Med Genet. 2000 Jan.

Abstract

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene. This leads to reduced levels of the protein, frataxin. There is mounting evidence to suggest that Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, which then results in cellular damage and death. Currently there is no known treatment that alters the natural course of the disease. The discovery of the FRDA gene and its possible function has raised hope that rational therapeutic strategies will be developed.

PubMed Disclaimer

References

    1. Trends Biochem Sci. 1998 Apr;23(4):135-8 - PubMed
    1. Diabetes. 1998 May;47(5):851-4 - PubMed
    1. J Biol Chem. 1998 Jun 5;273(23):14588-95 - PubMed
    1. J Biol Chem. 1998 Jul 17;273(29):18389-93 - PubMed
    1. Ann Neurol. 1998 Jul;44(1):132-4 - PubMed

Publication types