Author Archives: Özge Özkaya, PhD

An article in the medical journal The Lancet Neurology questions the usefulness of natural history studies in designing better clinical trials and improved treatments for Friedreich’s ataxia (FA). Natural history studies follow patients for several years in order to understand the natural course a disease takes as…

People with Friedreich's ataxia (FA) have abnormalities in their thinking flexibility including the inability to predict and inhibit a verbal response, according to a study published in the journal The Cerebellum.

Treating nerve cells derived from Friedreich’s ataxia (FA) patients with a molecule called compound 109 significantly increases the expression of the frataxin gene and protects the them from cell death induced by oxidative stress, suggests a study published in the scientific journal Human Molecular Genetics.

Heart transplantation could be a viable option in the long-term for Friedreich ataxia (FRDA) patients as suggested by the cases of three patients who remained alive, cognitively intact, and socially engaged following heart transplantation.

The most obvious neurological symptoms of Friedreich’s ataxia are incoordination of movement, gait disturbances and dizziness confirms a study published in journal International Archives of Otorhinolaryngology. Changes in the vestibular or balance system also occur in the vast majority of patients. Conducing vestibular testing is therefore important since otoneurologic symptoms, or those associated with the portions of the nervous system related to the ear occur early and this information could help doctors decide which procedure to perform when treating patients with Friedreich’s ataxia.

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.

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.

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.

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.

The mechanism leading to cell death in Friedreich’s Ataxia (FRDA) has been described in a new study published in the Annals of Clinical and Translational Neurology.