Patrícia Silva, PhD,  director of science content—

A study published in the journal Nature Medicine reported a promising gene therapy approach for the heart condition associated with Friedreich’s ataxia in an animal model. The study entitled “Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of…

Researchers at the University of Valencia in Spain and Baylor College of Medicine in the United States recently discovered a new pathway involved with Friedreich’s ataxia pathogenesis, providing new therapeutic targets for the disorder. The study was published in the journal PLoS One and is entitled…

A study recently published in the journal The Cerebellum assessed the genetic expression of particular genes putatively related to Friedreich’s ataxia disease. The study is entitled “Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients” and was developed by researchers at…

A study published in the Journal of Neurology, Neurosurgery and Psychiatry analyzed the performance of four different tools in the assessment of disease progression in Friedreich’s ataxia patients. The study is entitled “A study of up to 12 years of follow-up of Friedreich ataxia…

A study led by researchers at the University of Duisburg-Essen in Germany revealed structural and functional alterations in the cerebellum of patients with hereditary ataxia disorders, namely spinocerebellar ataxia (SCA) and Friedreich’s ataxia. The study was published in the journal Brain and is entitled “…

A recent study published in the journal Pharmacological Research revealed a new potential therapeutic strategy against Friedreich’s ataxia in cell models. The study is entitled “Targeting lipid peroxidation and mitochondrial imbalance in Friedreich’s ataxia” and was led by researchers at the UCL Institute of…

Researchers at Sawai Man Singh Medical College in India recently reported a case of a Friedreich’s ataxia patient with an abnormal rare movement manifestation. The study was published in the journal SpringerPlus and entitled “Familial segmental spinal myoclonus: a rare clinical feature of…

Researchers at Hacettepe University and Maltepe University in Turkey recently reported that Friedreich’s ataxia patients experience hair alterations. The study was published in the journal Microscopy Research and Technique and is entitled “Ultra-structural hair alterations in Friedreich’s ataxia: A scanning electron microscopic…

An international research team has recently published in the journal BMC Medical Genetics a large cohort analysis of Algerian patients with different forms of ataxia. The study is entitled “Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia”.

Researchers at the University of California, Davis (UC Davis) recently conducted a review study on data concerning the link between oxidative stress and inherited mitochondrial diseases like Friedreich’s ataxia. The study was published in the journal Free Radical Biology and Medicine and is entitled “…