José Lopes, PhD,  managing science editor—

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…

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 …

Synthetic molecules targeting the hallmark gene mutation in Friedreich’s ataxia (FA) were able to restore frataxin protein levels to normal in cells taken from patients, a study has found. FA is caused by a mutation in the FXN gene, resulting in reduced levels of frataxin, a protein…

Patients with Friedreich’s ataxia (FA) have smaller spinal cords and evidence of atrophy in specific areas of the brain — differences that, in their degree, work to help predict clinical decline, a German study reports. The study, “Structural characteristics of the central nervous system in Friedreich ataxia:…

Novoheart, in partnership with Pfizer, has created new models of cardiac dysfunction in Friedreich’s ataxia (FA) using human stem cells as the basis, the company announced. These models are part of the company’s MyHeart platform, an approach that aims to capture the major clinical symptoms of FA. “We…

A gene therapy approach to deliver frataxin, the protein that’s deficient in Friedreich’s ataxia (FA) patients, was able to reverse disease-related changes in a new mouse model of the disease, a French study reports. The study, “Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy…

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases,” appeared in the journal Brain Research. Neurodegenerative diseases typically progress…

The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians in Greece. Both siblings have musculoskeletal deformities and are wheelchair-bound. The study, “Clinical management of Friedreich’s Ataxia: a report…

Researchers have found that patients with Friedreich’s ataxia (FA) show progressive deterioration of auditory neural responses to ongoing acoustic stimulation. The study titled “Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia,” was published in the journal Clinical Neurophysiology. Patients with auditory neuropathy…

Researchers found that patients with Friedreich’s ataxia (FA) show a gradual reduction in low-contrast visual acuity over time. This decline is more pronounced in those with higher numbers of GAA repeats, a hallmark in FA, and could be a biomarker for future studies. The study, “Longitudinal analysis of low-contrast…