Patricia Inácio, PhD,  science writer—

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…

A next-generation sequencing technique known as whole exome sequencing (WES) led to new genetic variants for childhood-onset ataxias being identified — including some in genes not previously linked to ataxia, and some that are disease-causing when only one mutation is inherited — Finnish researchers reported at IARC 2017. The presentation, at Wednesday morning’s…

Recent advances in next-generation sequencing techniques are helping to revolutionize genetic testing, potentially ending the “diagnostic odyssey” that ataxia patients can now go through, researchers in Germany said in the opening presentation of the 2017 International Ataxia Research Conference (IARC) in Pisa, Italy. But with such advances come fresh questions and challenges, Matthis Synofzik at the…

Dozens of scientists from universities and pharmaceutical companies will come together at the 2nd International Ataxia Research Conference in Pisa, Italy, Sept. 27-30 to discuss new strategies for addressing the underlying mechanisms of ataxias. The conference will focus in particular on inherited ataxias, or those with a genetic cause. Since…

Missing 184 class periods in a year due to fatigue. Having someone tell the school principal you’re drunk because of your walking problems. Being belittled because of your slurred speech or hearing problems. Those were some of the situations that Friedreich’s ataxia patients told U.S. Food and Drug Administration officials…

Researchers detected alterations in cerebral brain functions of patients with Friedreich’s ataxia and believe they may mitigate the impact of motor impairments of the disease. The study, “Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study,” was published in the journal Movements Disorders. Friedreich’s ataxia (FA), the most common inherited ataxia is characterized by motor…

A group of brain diseases known as sporadic late-onset acute cerebellar ataxias have been attributed to lots of causes, so an American research team decided to study 80 patients to try to find patterns. They identified some patterns, but their two-year study’s findings basically backed up scientists’ long-held contention that there are…

Molecules released by certain stem cells may promote an increase of frataxin protein and rescue cellular function, researchers have shown in a cell model of Friedreich’s ataxia. The study, “Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells,” was published in the journal The Cerebellum. Friedreich’s ataxia is…

Low levels of frataxin protein, the hallmark of Friedreich’s ataxia, do not seem to impact the function of red blood cells, particularly the formation of hemoglobin’s core molecule, heme, a study suggests. The finding casts doubt on some researchers’ supposition that iron-metabolism problems play a role in Friedreich’s ataxia. It…

Liver growth factor (LGF) increased the frataxin protein and reduced oxidative stress when administered to mice with Friedreich’s ataxia (FA). This approach leads to a partial restoration of motor coordination in mice and may be a new therapeutic approach to treat FA patients. The study, “Liver Growth Factor (LGF)…