Akademik Veri Yönetim Sistemi
NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, cilt.57, sa.4, ss.270-273, 2020 (SCI-Expanded)
Friedreich's Ataxia (FRDA) is the most common form of autosomal recessive ataxia. The disease primarily results from a GAA trinucleotide repeat expansion within the FXN gene in up to 97% of patients. The clinical presentation begins approximately between the ages of 5 and 15. The major clinical findings of FRDA are progressive extremity and gait ataxia. Although it is known that the disease is caused by low levels of functional protein in the target tissues, there is no effective treatment available for this pathology. However, significant improvements have been achieved in the research into pharmacological treatments for FRDA in recent years. Interferon-gamma (IFN-gamma) has been shown to induce frataxin production in many cell types. In this study, the clinical features, tolerability, and the prognosis of individuals with FRDA to whom IFN-gamma was administered in a university hospital were evaluated retrospectively and the results were discussed. To the best of our knowledge, this is the first study conducted in our country to evaluate the effect of IFN gamma on this patient group.