News

Injections of vitamin B1 improved several symptoms in patients with Friedreich’s ataxia and kept patients from deteriorating further over a two-year period, according to a recently published study. While researchers caution that the results need to be verified, the findings open up the possibility of an entirely new way of approaching…

The loss of function of proteins associated with RNA, the transition molecule between DNA and protein, could contribute to neurological disorders such as Friedreich’s ataxia. In a recent review titled “Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration” and published in the Journal of Molecular Biology, a team of researchers from the University of Oxford in the U.K. led by Dr. Natalia Gromak focus on one such protein called senataxin (SETX) and the role it plays as a “genome guardian” preventing the development of neurological diseases.

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.