Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient. In this review, we propose explanations for such phenotypes based on the potential for activities of frataxin other than enhancement of iron-sulfur cluster synthesis, as well as crucial future experiments for fully understanding the role of frataxin in cells.
Monday, January 20, 2025
Friedreich ataxia: what can we learn from non-GAA repeat mutations?
Lynch DR, Shen M, Wilson RB. Friedreich ataxia: what can we learn from non-GAA repeat mutations? Neurodegener Dis Manag. 2025 Jan 15:1-10. doi: 10.1080/17582024.2025.2452147. Epub ahead of print. PMID: 39810561.
