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While speech difficulties in patients with Friedreich’s ataxia are not linked to the severity of disease, certain speech aspects associated with age at disease onset and disease duration may be valuable for accessing the disease even at mild levels of severity, according to the study “Voice in Friedreich’s Ataxia” recently published in the…

Recognizing atypical involuntary movements in childhood autosomal recessive ataxia syndromes can lead to early diagnosis and may allow for more effective treatment of the symptoms, according to a recent review of emerging data. Autosomal recessive cerebellar ataxias (ARCA) are a diverse group of rare, usually inherited conditions that typically appear before age…

Altering the three dimensional structure of DNA with pharmacological agents could reactivate the frataxin gene, the silencing of which causes Friedreich’s Ataxia, according to a study titled “Alleviating GAA repeat induced transcriptional silencing of the Friedreich’s ataxia gene during somatic cell reprogramming” and published in the journal Stem Cells and Development.

The severity of the frataxin mutation, which causes Friedreich’s ataxia (FA), is the main factor determining the speed of the disease’s progression, next to age — a finding that may improve the design of future clinical trials for Friedreich’s ataxia therapies, researchers found. The study, “Progression of Friedreich ataxia:…

The Friedreich’s Ataxia Center of Excellence at The Children’s Hospital of Philadelphia is presenting a one-day annual symposium on Friedreich’s ataxia (FA) Monday, Oct. 17, in King of Prussia, Pennsylvania. The ninth annual meeting demonstrates the ongoing outreach of the Friedreich’s Ataxia Research Alliance (FARA) to the FA community nationwide and an…

Patients with Friedreich’s ataxia (FA) show notable mental health stability despite physical decline compared to patients with other neurodegenerative disorders. These findings are reported in a three-year longitudinal study of FA patients, using self-reporting questionnaire scales. In the study, “A longitudinal study of the SF-36 version 2 in Friedreich ataxia,” published…

Antioxidants do not seem to improve neurological symptoms in Friedreich’s Ataxia according to a literature review conducted by a team of international scientists and published in Cochrane Database of Systematic Reviews.

Researchers from Turkey described the case of a large family, several members of which had Friedreich’s Ataxia with atypical features.

Researchers report that the analysis of the neurological changes occurring in patients with Friedrich’s Ataxia (FDRA) may serve as prediction factors of disease progression and be useful in the design of clinical trials to investigate future therapies. The findings suggest, namely, that clinical trials would benefit from recruitment of younger…

Researchers have created a cell model that will allow the study of molecular changes that result from the loss of the Friedreich’s ataxia (FA) protein frataxin at different time points in development. The model will likely advance knowledge into the molecular consequences of frataxin loss, and will allow both the identification…