Skip to main content
SpringerLink
Log in

Movement disorders

Friedreich ataxia today—preparing for the final battle

  • News & Views
  • Published:

From Nature Reviews Neurology

View current issue Sign up to alerts

Research into Friedreich ataxia has been hampered by low availability of study participants. Now, a European consortium has released baseline data from a continuing study of 592 patients with Friedreich ataxia, providing information on clinical features and progression. Such large cooperative studies might herald the final battle against this disabling disease.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1: Consequences of the GAA repeat expansion.

References

  1. Campuzano, V. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423–1427 (1996).

    Article  CAS  Google Scholar 

  2. Reetz, K. et al. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 14, 174–182 (2015).

    Article  Google Scholar 

  3. Schmucker, S. & Puccio, H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum. Mol. Genet. 19, R103–R110 (2010).

    Article  CAS  Google Scholar 

  4. Saccà, F. et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS ONE 6, e17627 (2011).

    Article  Google Scholar 

  5. Filla, A. et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet. 59, 554–560 (1996).

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Dürr, A. et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. 335, 1169–1175 (1996).

    Article  Google Scholar 

  7. Pandolfo, M. et al. Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial. Ann. Neurol. 76, 509–521 (2014).

    Article  CAS  Google Scholar 

  8. Parkinson, M. H., Schulz, J. B. & Giunti, P. Co-enzyme Q10 and idebenone use in Friedreich's ataxia. J. Neurochem. 126 (Suppl. 1), 125–141 (2013).

    Article  CAS  Google Scholar 

  9. Soragni, E. et al. Epigenetic therapy for Friedreich ataxia. Ann. Neurol. 76, 489–508 (2014).

    Article  CAS  Google Scholar 

  10. Plasterer, H. L. et al. Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PLoS ONE 8, e63958 (2013).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors would like to thank Josh Williams for checking the English in the article.

Author information

Authors and Affiliations

  1. Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Università di Napoli Federico II, Via Pansini 5, Napoli, I-80131, Italy

    Giuseppe De Michele & Alessandro Filla

Authors
  1. Giuseppe De Michele
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Alessandro Filla
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Giuseppe De Michele.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

PowerPoint slides

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

De Michele, G., Filla, A. Friedreich ataxia today—preparing for the final battle. Nat Rev Neurol 11, 188–190 (2015). https://doi.org/10.1038/nrneurol.2015.33

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrneurol.2015.33

  • Springer Nature Limited

This article is cited by

Search

Navigation