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The most obvious neurological symptoms of Friedreich’s ataxia are incoordination of movement, gait disturbances and dizziness confirms a study published in journal International Archives of Otorhinolaryngology. Changes in the vestibular or balance system also occur in the vast majority of patients. Conducing vestibular testing is therefore important since otoneurologic symptoms, or those associated with the portions of the nervous system related to the ear occur early and this information could help doctors decide which procedure to perform when treating patients with Friedreich’s ataxia.

Patients with different muscular-coordination conditions, or ataxia, exhibit different eye reflexes after head impulses, a finding that could help doctors determine the severity of a patient’s disease. The video head impulse tests (vHIT) that researchers used showed differences in eye movements between patients with spinocerebellar ataxias and patients with Friedreich’s…

Fibroblasts, or connective tissue cells, from Friedreich’s ataxia patients were used to identify changes in the frataxin (FXN) gene under stress, and to see how it interacts in various regulatory and biological processes. This basic genetics research, in helping to explain and understand the disease, may help to guide the development of…

The Friedreich’s Ataxia Research Alliance (FARA) and Livonia, Michigan-based law firm Foley, Baron, Metzger & Juip (FBMJ) have teamed up to sponsor a movie premiere event featuring the highly anticipated “Rogue One: A Star Wars Story.” Proceeds will be designated to support research toward finding treatments and…

Horizon Pharma has dropped its entire Actimmune (interferon gamma-1b) clinical development program in Friedreich’s ataxia following the failure of a Phase 3 trial which aimed to show that the treatment improves outcomes of the disease. The results are disappointing for patients with a disease lacking any effective treatment. The STEADFAST…

Recent research in Friedreich’s ataxia (FA) has revealed new possibilities for lipid metabolism as a therapeutic target to slow the progression of the disease in patients. The latest knowledge of the molecular basis of FA and its underlying metabolic alterations was discussed in a review study titled “Oxidative stress…

Researchers have identified the molecular mechanism through which loss of frataxin, the protein missing in Friedreich’s ataxia (FA), causes cell damage leading to neurodegeneration, according to a new mouse study. This finding may prove helpful in designing new therapies to treat Friedreich’s ataxia patients. The study, “Loss Of Frataxin…

Restoring normal frataxin production, the protein missing in Friedrich’s ataxia (FA), may become possible in the future, according to research recently published in the journal PLoS One. The study is titled “Disruption Of Higher Order DNA Structures In Friedreich’s Ataxia (GAA)n Repeats By PNA Or LNA Targeting,” and was…

DNA-like compounds that appear to correct the abnormal three-dimensional structures formed in the mutated region of the frataxin gene — the culprit of Friedreich’s ataxia — may open research into how the atypical structures prevent the gene from working. This, in turn, could lead to the development of drugs that…

Heart cells grown from patient-derived, induced pluripotent stem cells can provide plenty of information about heart disease in Friedreich’s ataxia, a recent review argues, underscoring that such cell models are also the way forward to advance discovery of drug therapies. However, the review, “Using human pluripotent stem…