News

The European Union is supporting a number of  projects focused on the natural history of several spinocerebellar ataxias, projects that look at disease course over time — from onset to resolution — in a person. A better understanding of SCAs natural history will offer insights into disease progression, markers of progression, and potentially…

The European Friedreich Ataxia Consortium for Translational Studies (EFACTS) group suggested specific outcome measures it found to be best suited to clinical trials testing possible treatments for Friedreich’s ataxia, and emphasized that studies looking at disease-modifying therapies need to run for at least two years. Jörg Schulz, a neurologist at RWTH…

Delivery of a small RNA molecule (microRNA), called let-7, directly into the brain rescued motor impairments in a mouse model of Machado-Joseph disease, researchers at Center for Neuroscience and Cell Biology in Coimbra, Portugal, reported at IARC 2017. Their study, “Let-7 activates autophagy and alleviates motor and neuropathological deficits in…

Regular and long-term aerobic exercise — in this case, running — slowed the start of Friedreich’s ataxia symptoms and prevented metabolic abnormalities in a mouse model of the disease, researchers report, calling their findings evidence that exercise offers “profound protection” if started at a young age. The oral presentation, “Voluntary running prevents onset of symptomatic…

In Friedreich’s ataxia, insufficient frataxin protein in cells impairs the ability of mitochondria  to control the production of harmful reactive oxygen species, which accumulates and ultimately triggers nerve cell death, research into a mouse model of the disease revealed. The study, detailing how harm done to mitochondria in nerve cells helps to promote…

A new mouse model of Friedreich’s ataxia, detailed at IARC 2017, exhibits human features of the disease and has the potential to be of ” broad utility” in research into the underlying mechanisms of this common ataxia and ways to fight it. Its development was discussed at a Thursday session, “Translational Models of…

In this Facebook Live Chat, reporter Hal Foster — joined by scientists and leaders of groups working to promote research and patient interests in Friedreich’s and other ataxias — looks back at highlights of the opening day of IARC 2017 in Pisa, Italy. …

Ron Bartek has a long list of accomplishments. He was a West Point graduate and U.S. Army officer, worked on U.S.-Soviet nuclear arms reduction treaties for the State Department in the 1980s, was a congressional staff member, and ran his own public affairs company. But if you ask what his…

New research, presented at IARC 2017, showed that the frataxin gene in cells taken from Friedreich’s ataxia patients produces very little of the frataxin protein in part due to epigenetic marks that essentially tell the gene to switch off. These findings suggest that targeting the epigenetic remodeling of frataxin gene…

A protein called RNF126 mediates the degradation of the frataxin protein in cells of people with Friedreich’s ataxia, a new study presented at IARC 2017 showed. Its researchers suggest that targeting this protein may be a way of treating the disease, as RNF126 inhibition allowed frataxin to accumulate in cells. The study, “E3 ligase RNF126 directly…