News

Heart cells grown from patient-derived, induced pluripotent stem cells can provide plenty of information about heart disease in Friedreich’s ataxia, a recent review argues, underscoring that such cell models are also the way forward to advance discovery of drug therapies. However, the review, “Using human pluripotent stem…

Analyzing speech disparity in Friedreich’s ataxia using a program called Analysis of Dysphonia in Speech and Voice (ADSV) provides a measure that has excellent sensitivity and specificity, according to a study published in the Journal of Voice. Finding a good measure that can track disease progression and determine the effectiveness of any treatment is vital for the management of Friedreich’s ataxia. According to the authors, a better understanding of the condition can help optimize the communication abilities, occupational success, and social interactions of the affected people.

Younger Friedreich’s ataxia patients have an abnormal assembly of heart structures called intercalated discs (ICD) which prevent proper transmission of signals between heart muscle cells and contribute to heart disease. The study, “The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy,” published in the…

An Indian population study has shown that a specific mutation in a gene involved in iron regulation, the HFE gene, is seen frequently in patients with Friedreich’s ataxia (FA), and it could be a culprit in damaging the peripheral nerves in FA. The study, “Iron related hemochromatosis (HFE) gene mutations…

Patients with late-onset Friedrich’s ataxia (LOFA) may present variable sensory nerve conduction, according to new research. The study, “Variable Sensory Nerve Conduction Parameters In Late Onset Friedreich Ataxia,” was published in the journal Muscle & Nerve. Nerve conduction studies are commonly performed by neurology specialists to assess the…

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.