Author Archives: Özge Özkaya, PhD

Balance Tests Crucial in Evaluating Friedreich’s Ataxia Patients, Study Says

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 Disparities in Friedreich’s Ataxia Could Help Manage the Condition

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.

‘Genome Guardian’ May Prevent Development of Friedreich’s Ataxia, Other Neurological Disorders

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 DNA Structure in Stem Cells Seen to Reactivate Frataxin Gene, if Briefly

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.