Iqra Mumal, MSc,  —

Increased thickness of the lower left chamber of the heart — the left ventricle — is one of the most common structural heart abnormalities found in patients with Friedreich’s ataxia and also correlates with genetic disease severity in adults, a study has found. The study, “Left ventricular structural…

Reactivativation of the Nrf2 pathway, which is impaired in the nerve cells — or neurons — of patients with Friedreich’s ataxia (FA), leads to the re-establishment of proper neuron development and maturation, a mouse study shows. The study, “Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich’s…

Iron chelation therapy using deferiprone, while helping heart function, does not seem to improve neurological symptoms in Friedreich’s ataxia patients, a review study argues. The study, “New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases,” was published in the journal Pharmaceuticals. Some research suggests that…

Vitamin E can be used to help restore the irregular balance of calcium that contributes to mitochondrial dysfunction in neutron and heart cell models of Friedreich’s Ataxia. The study with that finding, “Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology,” was published in the journal Frontiers in…

Diabetes mellitus in Friedreich’s ataxia (FA) patients can be well-controlled through the use of individualized treatment regimens with insulin or oral antidiabetics, a case series shows. The study, “Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry,” was published in the…

People with Friedreich’s ataxia (FA) in South Brazil exhibited clinical symptoms similar to patients in Europe, although FA has a much lower prevalence in Brazil, according to researchers. Their study, “Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil,” was published in the journal The Cerebellum.

Endoplasmic reticulum stress due to loss of frataxin protein plays a major role in the development of Friedreich’s ataxia and could be targeted for therapy, a study involving fruit flies shows. The study, “Mitofusin-Dependent ER Stress Triggers Glial Dysfunction and Nervous System Degeneration in a Drosophila Model…

Inhibitors of p38 — a protein involved in regulating cell growth — show potential for use as therapeutic agents in the treatment of Friedreich’s ataxia (FA), a recent study suggests. The study, “Identification of p38 MAPK as a novel therapeutic target for Friedreich’s ataxia,” was published in the journal…

Researchers modified two new classes of drugs, known as duplex RNAs and antisense oligonucleotides, targeted against the Frataxin (FXN) gene, which had a therapeutic effect in cells from patients with Friedreich’s ataxia. The study titled, “Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat,” was…

Friedreich’s ataxia patients have a specific personality and neuropsychological profile that is characterized by very mild cognitive impairment, a new study shows. The study, “Personality and Neuropsychological Profiles in Friedreich Ataxia,” was published in the journal The Cerebellum. People with Friedreich’s ataxia (FA) have lesions found primarily…

UCLA scientists have found that many early symptoms of Friedreich’s ataxia (FA) can be reversed, according to research they conducted in a new mouse model of the disease. Their study, titled “Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia,” was published in the journal…

Lack of frataxin protein in the heart muscles of mice with Friedreich’s ataxia leads to low levels of another protein that protects against heart damage, a study reports. The heart-protecting protein, Nrf2, regulates oxidative stress, an imbalance between the body’s production of potentially harmful free radicals and the antioxidant system’s ability to…

Activating a protein known as Nrf2 might prevent the nerve cell disintegration that is a hallmark of Friedreich’s ataxia, a study indicates. The research, published in the International Journal of Molecular Sciences, involved cells grown in a lab. Its title is “Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic…

The synthetic peptide SS-31 increased production of the frataxin protein that is missing in Friedreich’s ataxia, a Chinese study reports. Researchers said the finding raises the possibility that scientists could develop an FA therapy around SS-31. Peptides occur naturally as components of proteins. The team published its study in the journal…

Many Friedreich’s ataxia patients experience urinary tract symptoms, bowel problems, and sexual dysfunction, which leads to a lower quality of life, research shows. The study, “Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia,” was published in the Orphanet Journal of Rare Diseases. Friedreich’s…