News

A treatment approach that uses genetically engineered proteins was able to significantly increase the levels of expression of the FXN gene, which is mutated in Friedreich’s ataxia, allowing for greater frataxin protein to be produced in patients’ cells and in a mouse model of the disease. These findings suggest…

Friedreich’s ataxia patients produce less sweat than healthy people, which may be a useful biomarker of disease severity and progression, a recent study suggests. The study, “Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia,” was published in the journal Clinical Neurophysiology. Patients…

A new case report describes a 7-year-old boy with Friedreich’s ataxia (FA) who has a particularly early age of disease onset and an extremely rare type of mutation in the FXN gene, which led to unsteady gait, tremor, and spine curvature, among other manifestations. The study, “…

A rare case report of a 16-year-old boy with Friedreich’s ataxia who retained responsive tendon reflexes highlights the importance of recognizing unusual symptoms of the disease to enable proper and timely care. The case study was described by researchers from the University of Kentucky College of Medicine in the study…

A walkway system called GAITRite is a reliable and feasible method to assess gait in young patients with Friedreich’s ataxia (FA), according to a new study. FA patients showed slower speed and increased stride time, among other changes. The study, titled, “Test-retest reliability of an…

Diabetes mellitus in Friedreich’s ataxia (FA) patients can be well-controlled through the use of individualized treatment regimens with insulin or oral antidiabetics, a case series shows. The study, “Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry,” was published in the…

A large, European registry study shows that Friedreich’s ataxia patients have a considerable spectrum of clinical symptoms that go beyond the typical neurological ataxia. Common non-neurologic clinical symptoms identified by researchers included abnormal eye movements and skeletal deformities, as well as urinary problems and heart disease. Their study, “Nonataxia…

Specific antioxidant compounds and derivatives were able to boost levels of the protein frataxin in cells from Friedreich’s ataxia (FA) patients, according to researchers from Arizona State University in Tempe. Their study, “Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich’s ataxia cells,” appeared in the journal …

Long-term use of EPI-743 (vatiquinone), an investigational therapy being developed by BioElectron, can improve neurological function and prevent disease progression in Friedreich’s ataxia (FA) patients, results from a Phase 2 clinical trial show. Trial data was reported in the study, “Double-blind, randomized and controlled trial of EPI-743 in…

A discovery made in plants may shed light on the genetic mechanism underlying Friedreich’s ataxia (FA) and open the door to new ways to treat the disease, a study reports. Looking at genetic alterations in plants similar to the ones found in the…