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

Unanswered questions in Friedreich ataxia

David R Lynch  1 , Eric C Deutsch, Robert B Wilson, Gihan Tennekoon
Affiliations
Review

Unanswered questions in Friedreich ataxia

David R Lynch et al. J Child Neurol. 2012 Sep.

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.

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Conflict of interest statement

Conflicts of Interest

The authors report no conflicts of interest.

References

    1. Campuzano V, Montermini L, Molto MD, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423–1427. - PubMed
    1. Grabczyk E, Usdin K. The GAA*TTC triplet repeat expanded in Friedreich’s ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res. 2000;28(14):2815–22. - PMC - PubMed
    1. Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet. 1997;17:215–217. - PubMed
    1. Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 1997;276:1709–1712. - PubMed
    1. Sparaco M, Gaeta LM, Santorelli FM, et al. Friedreich’s ataxia: oxidative stress and cytoskeletal abnormalities. J Neurol Sci. 2009;287(1–2):111–118. - PubMed

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