Friedreich’s ataxia: new insights

Maria M. Krasilnikova, Casey L. Humphries, Emily M. Shinsky

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous, and cardiovascular systems with progressive worsening of the symptoms over the years. This review summarizes recent progress that was achieved in understanding of molecular mechanism of the disease over the last few years and latest treatment strategies focused on overcoming the frataxin deficiency.

Original languageEnglish (US)
Pages (from-to)313-323
Number of pages11
JournalEmerging topics in life sciences
Volume7
Issue number3
DOIs
StatePublished - 2023

All Science Journal Classification (ASJC) codes

  • General Medicine

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