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 “…
A team led by researchers at the Universidad Autónoma de Madrid in Spain recently published new data on a gene therapy for Friedreich’s ataxia based on the expression of the human frataxin gene from artificial systems. The study is entitled “Delivery of the 135 kb human…
A new study led by researchers at University of Rome ‘Tor Vergata’ in Italy recently revealed that inhibitors of the Src protein kinase can represent a potential new therapeutic strategy against Friedreich’s ataxia. The study is entitled “Src inhibitors modulate frataxin protein levels” and was published…
Researchers at Miguel Hernandez University and the University of Murcia in Spain have recently published in the journal Experimental Cell Research their results on genetic and epigenetic factors linked to Friedreich’s ataxia. The study is entitled “Novel aberrant genetic and epigenetic events…
A new study recently published in the journal Neurology revealed a potential novel therapeutic approach for Friedreich’s ataxia based on analogs of incretin, a metabolic hormone that stimulates insulin secretion. The study is entitled “Study of beta cells and neurons indicate incretin analogs as…
Researchers at the University of Oxford in the United Kingdom recently published in the journal Human Molecular Genetics new insights into the molecular mechanisms behind the repression of the frataxin gene, which is associated with Friedreich’s ataxia. The study is entitled “Expanded GAA repeats impair…
A new study was recently published in the journal Parkinsonism & Related Disorders, revealing that sleep disorders can be helpful in the differentiation of different ataxia types. The study is entitled “Differential Diagnosis of Sporadic Adult-Onset Ataxia: The Role of REM Sleep Behavior Disorder”…
Researchers at Wayne State University in Detroit and the University of Pennsylvania in Philadelphia, recently revealed the mechanism behind the iron binding process in the assembly of iron-sulfur (Fe-S) clusters, a pathway that is defective in disorders such as Friedreich’s ataxia. The study was published in the journal…
Biotechnology company BioBlast Pharma Ltd. recently announced in a press release that its mitochondrial protein replacement therapy drug candidate (BB-FA) for Friedreich’s ataxia has yielded positive results in a preclinical in vitro and in vivo proof-of-concept study. The results were presented during the International Ataxia Research Conference recently…
Researchers at the University of Rome “Tor Vergata” in Italy and Fratagene Therapeutics Ltd. in Ireland recently revealed a novel therapeutic strategy for Friedreich’s ataxia based on specific small molecules. The study was published in the journal Neurobiology of Disease and is entitled “…
A recent opinion article from two researchers at University of Naples Federico II, Italy, entitled “Movement disorders: Friedreich ataxia today – preparing for the final battle” and published in the journal Nature Reviews Neurology, focused on the results from a European consortium based on a…
A team led by researchers at Universidade Federal de São Paulo and Hospital Israelita Albert Einstein in Brazil recently published in the journal Neurogenetics a review based on the main clinical characteristics, the pathophysiological mechanisms, and the therapeutic strategies available for Friedreich ataxia. The…
Researchers at the University of South Florida, Morsani College of Medicine published in the journal Gait & Posture their findings on gait and balance parameters in a group of adult Friedreich’s ataxia patients and the correlation between the two variables. The study is entitled “…
A recent study published in the journal PLoS ONE characterized the association of the neurodegenerative disorder Friedreich’s ataxia with cardiac pathology. The study is entitled “The Pathogenesis of Cardiomyopathy in Friedreich Ataxia.” Friedreich’s ataxia corresponds to a rare inherited disease characterized by progressive…
The National Ataxia Foundation (NAF) recently awarded funding for 23 promising ataxia research projects. The project led by Dr. Padmaja Vittal from Rush University Medical Center in Chicago received the “Clinical Research Training Fellowship in Ataxia Award” that helps fund the training of the next…
The National Ataxia Foundation (NAF) recently awarded funding for 23 promising ataxia research projects. One of the projects is led by Dr. Ismael Al-Ramahi from Baylor College of Medicine in Houston, Texas and has received a “Pioneer SCA Translational Grant Award.”…
The National Ataxia Foundation (NAF) announced in December 2014 the funding of 23 important ataxia research projects in the United States, Mexico, Belgium, Portugal, United Kingdom and Germany. One of the projects awarded within the United States is led by Dr. Jeremy D. Schmahmann from …
A study published in The Journal of Biological Chemistry provides a detailed analysis on iron-sulfur cluster biogenesis in mammalian mitochondria based on a novel experimental system. The study is entitled “Fe – S cluster biogenesis in isolated mammalian mitochondria: coordinated use of per sulfide sulfur…
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