News

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…

Inhibitors of 2-aminobenzamide histone deacetylase (HDAC) are a proposed new treatment for Friedreich’s ataxia. Applying HDAC inhibitors to neuronal cells derived from Friedreich’s ataxia patients’ induced-pluriopotent stem cells results in an increased expression of frataxin mRNA transcripts and protein. A group of researchers at The Scripps Research Institute in…

In a recent article titled “Consensus clinical management guidelines for Friedreich ataxia” published in the journal Orphanet Journal of Rare Diseases, Louise Corben from the Children’s Research Institute, Australia and colleagues on behalf of the Clinical Management Guidelines Writing Group Murdoch reviewed the…

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 “…

The vast majority of patients with Friedreich’s ataxia develop symptoms in the first or second decade of life, enabling an early diagnosis and early medical attention to alleviate symptoms of the disease. However, a small number of patients develop late-onset Friedreich’s ataxia (LOFA) between the ages of 25 and…

Although German physician Nikolaus Friedreich first recognized Friedreich’s ataxia in 1863, it was not until 1996 that two scientific teams discovered the underlying cause of the disease: a mutation in the gene for frataxin protein. Since that time, researchers have identified two types of mutations that cause Friedreich’s ataxia…

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…