Magdalena Kegel,  —

Younger Friedreich’s ataxia patients have an abnormal assembly of heart structures called intercalated discs (ICD) which prevent proper transmission of signals between heart muscle cells and contribute to heart disease. The study, “The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy,” published in the…

Injections of vitamin B1 improved several symptoms in patients with Friedreich’s ataxia and kept patients from deteriorating further over a two-year period, according to a recently published study. While researchers caution that the results need to be verified, the findings open up the possibility of an entirely new way of approaching…

While speech difficulties in patients with Friedreich’s ataxia are not linked to the severity of disease, certain speech aspects associated with age at disease onset and disease duration may be valuable for accessing the disease even at mild levels of severity, according to the study “Voice in Friedreich’s Ataxia” recently published in the…

The severity of the frataxin mutation, which causes Friedreich’s ataxia (FA), is the main factor determining the speed of the disease’s progression, next to age — a finding that may improve the design of future clinical trials for Friedreich’s ataxia therapies, researchers found. The study, “Progression of Friedreich ataxia:…

Researchers have created a cell model that will allow the study of molecular changes that result from the loss of the Friedreich’s ataxia (FA) protein frataxin at different time points in development. The model will likely advance knowledge into the molecular consequences of frataxin loss, and will allow both the identification…

Researchers report identifying two potential blood biomarkers of Friedreich’s ataxia disease progression and drug response that could be used, in addition to frataxin levels, as tools in future clinical trials of the disease. The study, “Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug…

Friedreich’s ataxia (FA) patients have elevated blood levels of a factor indicating increased collagen production, a finding that researchers could link to remodeling of heart tissue. These findings could help identify heart problems in FA patients, especially because heart conditions represent the typical cause of death in Friedreich’s ataxia. The study,…

Researchers at Weill Cornell Medical College in New York have discovered mechanisms that explain how a mutation in the frataxin gene — the cause of Friedreich’s ataxia — prevents the production of the frataxin protein, and also discovered a process by which the mutations expand. The study, “…

Neurodegeneration in Friedreich’s ataxia can be independent of faulty mitochondria and oxidant molecules. Rather, researchers at Baylor College of Medicine in Houston, Texas, demonstrated that iron toxicity contributed to disease processes in a fruit fly model of the disease. The study, “Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and…

Production of frataxin protein in most Friedreich ataxia patients is blocked by gene mutations that prevent the reading (transcription) of the gene, but new research shows that the obstruction can be overcome using a drug to block HDAC (histone deacetylator) enzymes involved in the process and that the effect of the…