News

Several studies have suggested that the deregulation of iron processing in the organism is an important feature of frataxin deregulation, and consequently of Friedreich’s ataxia, according to a review study. In the study, “Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?”…

A comprehensive evaluation of the brain with magnetic resonance imaging (MRI)-based methods and clinical features of Friedreich’s ataxia (FA) may provide valuable information to fully understand the neurological impairment linked to the disease, researchers suggest. This is supported by the findings from the study, “Functional and Structural…

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 …