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…
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An article in the medical journal The Lancet Neurology questions the usefulness of natural history studies in designing better clinical trials and improved treatments for Friedreich’s ataxia (FA). Natural history studies follow patients for several years in order to understand the natural course a disease takes as…
Researchers may have found a new therapeutic target for the management of Friedreich’s ataxia. A study, “E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification Of A Potential Therapeutic Target For Friedreich Ataxia,” was published in the journal Cell Reports. Friedrich’s ataxia is characterized by reduced expression…
People with Friedreich's ataxia (FA) have abnormalities in their thinking flexibility including the inability to predict and inhibit a verbal response, according to a study published in the journal The Cerebellum.
Equistasi, a medical device, may improve limb and gait ataxia — a loss of control of voluntary muscular movement — in patients with hereditary cerebellar ataxia, such as Friedreich’s ataxia, but more studies are necessary to confirm these findings, researchers said. The study, “A Wearable Proprioceptive Stabilizer For…
Symptoms of late-onset Friedreich’s ataxia may be confused with those of another genetic disorder, Charcot–Marie–Tooth (CMT) disease, according to a case study. Researchers called for a careful evaluation of patients to prevent misdiagnosis. The study, “Late-Onset Friedreich’s Ataxia (LOFA) Mimicking Charcot–Marie–Tooth Disease Type 2: What Is Similar And What…
Chondrial Therapeutics has licensed the investigational compound CTI-1601 for treating Friedreich’s ataxia (FA) from Indiana University Research and Technology Corporation (IURTC) and Wake Forest University Health Sciences. The company said it has also secured $22.6 million in financing to advance the treatment. “The $22.6 million Series A financing, combined with the licensing…
Treating nerve cells derived from Friedreich’s ataxia (FA) patients with a molecule called compound 109 significantly increases the expression of the frataxin gene and protects the them from cell death induced by oxidative stress, suggests a study published in the scientific journal Human Molecular Genetics.
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)…
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Inflammatory Bowel Disease, Growth Hormone Deficiency More Likely in Patients With FA, Study Shows
Patients with Friedreich ataxia (FA) are more likely to develop inflammatory bowel disease and growth hormone deficiency than those without FA, concludes a recent study. Researchers believe that these associations, which may be coincidental or a result of disease interaction or shared genetic features, warrant further research. The study, “Comorbid Medical Conditions…
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