Magdalena Kegel,  —

Gait speed might be used as an objective measure to assess disease progression in adults with Friedreich’s ataxia who are still able to walk, according to a small study which suggested that the measure is more sensitive in detecting neurological changes in the short term. Because current tools for measuring…

A type of compound called HDAC inhibitors show promise as therapy for Friedreich’s ataxia, according to two researchers at The Scripps Research Institute in California. However, current drug candidates need to be improved to be suitable for use in a chronic condition such as Friedreich’s ataxia. In the study,…

Friedreich’s ataxia patients’ cognitive decline is linked to changes in brain networks — but the changes go beyond the movement-related cerebellum and spinal cord neuron degeneration associated with the disease, a study suggests. The findings led the research team to suggest that Friedreich’s ataxia is a multisystem disorder. The implication is…

Identifying the underlying cause, and setting a diagnosis of ataxia is crucial, since therapies are available for some cases of immune-mediated or genetically acquired ataxias. A review of all diagnoses among a large sample of ataxia patients revealed that familial ataxias, including Friedreich’s ataxia, represent only a small proportion of…

The selective degeneration of certain neurons in patients with Friedreich’s ataxia may be explained by the effect that the lack of frataxin has on nervous system cells called astrocytes. Researchers discovered that mice, which grew up without frataxin, had abnormal astrocytes in their cerebellum, while those cells in the front of…

A case report suggests that Friedreich’s ataxia can manifest as abnormal voluntary eye movements, rather than the typical loss of gait and limb control. To reduce the risk of misdiagnosis, researchers behind the report urge neurologists to bear in mind that the symptoms of the disease can vary widely, possibly…

Noninvasive measurements of mitochondrial capacity in skeletal muscle of patients with Friedreich’s ataxia could be used to monitor disease severity and progression, according to a recent study. In contrast, the study failed to find a link between mitochondrial capacity or muscle endurance to perceptions of fatigue. The study,…

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…

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…