Patricia Inácio, PhD, science writer —

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…

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…

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)…

Researchers found two chemical treatments that increased iron storage protein, called mitochondria ferritin, in cells from a Friedreich’s ataxia patient. These results suggest a potential treatment option for protecting against mitochondrial oxidative damage in these patients. The study, “Characterization of human mitochondrial ferritin promoter: identification of transcription factors and…

A cocktail of clinically approved cytokines for other diseases shows promising neuro-protective effects in a Friedreich’s ataxia (FA) humanized mouse model. The study, “Cytokine therapy-mediated neuroprotection in a Friedreich’s ataxia mouse model,” was published in the journal Annals of Neurology. FA is a severe neurological disease that affects the…

Improving metal homeostasis was shown to have therapeutic benefits in a fly model of human Friedreich’s ataxia (FA). The study “Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease,” was published in the journal PLOS One. Friedreich’s ataxia is a neurodegenerative disease caused by reduced levels…

Heart tissue from deceased patients with Friedreich’s ataxia was found to have quite low levels of copper, according to a recent study. Its authors suggest that copper supplements may benefit people with FA, although the link between copper levels and cardiomyopathy needs further research. The study, “Abundance and Significance of Iron, Zinc, Copper,…

A study titled “Oligonucleotide-based Therapy in BAC-Mouse Models of SCA14” by researchers at the University of Washington in Seattle was recognized with a Pioneer SCA (spinocerebellar ataxia) Translational Research Award for its potential to develop a future SCA therapy. Spinocerebellar ataxia type 14 (SCA14) is a dominant ataxia that, unlike Friedreich’s ataxia, is not caused…

Metabolic analysis of platelets from patients with Friedreich’s ataxia (FA), using liquid chromatography–mass spectrometry (LC-MS), revealed metabolic alterations that may be the focus of future therapeutics, according to a study, “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets,” published in the Bioanalysis journal. FA is a genetic disease caused…

Friedreich’s ataxia associated with DNA damage in microglia cells leads to an increase of PARP-1 protein, which, once inhibited, weakens microglia activation and disease behavior impairments, according to a study, “Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34,” published in the open access journal PLOS One.

A recent study describes a case of ataxia with isolated vitamin E deficiency (AVED) that was initially misdiagnosed as Friedreich’s ataxia, delaying proper treatment. The study was published in the journal Case Reports in Neurological Medicine. AVED is a rare genetic disease characterized by progressive cerebellar ataxia, dorsal column signs, and pyramidal deficits on examination. Clinically,…

In the largest clinical trial to date, researchers observed that treatment of the alpha form of erythropoietin protein did not benefit Friedreich’s ataxia (FA) patients. The study, “Long-Term Effect of Epoetin Alfa on Clinical and Biochemical Markers in Friedreich Ataxia,” was published in the…

Scientists believe that delivery of functional frataxin mRNA via RNA transcript therapy (RTT) can become a potential therapy for Friedreich’s ataxia patients. The study, “Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia,” was published in the journal Scientific Reports. Friedreich’s…

Corticosteroid therapy is a potential therapeutic treatment for patients with Friedreich ataxia (FRDA) and nephrotic syndrome, according to a study titled “Friedreich Ataxia and nephrotic syndrome: a series of two patients,” published in the journal BMC Neurology. FRDA is a genetic, progressive, neurodegenerative disorder that causes…

In a new study entitled “Efficient attenuation of Friedreich’s ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA,” researchers suggest that the chemical compound deferiprone, a mitochondrial permeable iron chelator, is an effective drug to treat Friedreich’s ataxia-mediated cardiomyopathy by…

In a recent study entitled “FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia” a team of researchers reported that the mechanisms leading to silencing of the FXN gene, the underlying cause of Friedreich ataxia (FA), is not confined to tissues and cells reported to be affected…

In a recent study entitled “Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia” a team of researchers described a new system that allows the identification of novel molecular pathways responsible for Friedreich’s Ataxia, as well as potential new…

In a recent study entitled “Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data,” researchers describe the biological and clinical characteristics of patients with Friedreich’s Ataxia as a model of clinical outcomes to be…