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Neurological recovery with interferon-gamma treatment in friedreich's ataxia
(College of Physicians and Surgeons Pakistan, 2022) Tekin Hande Gazeteci; Levent Ertürk
Friedreich's ataxia (FA) is a rare, progressive, and degenerative hereditary disorder caused by a deficiency of frataxin protein. This disease is characterised by severe neurological dysfunction and life-threatening cardiomyopathy. Various drugs are used to slow down / stop the neurodegenerative progress. However, recent clinical trials and animal experiments demonstrate that interferon- gamma (IFN-?) treatment might improve signs of FA as well. A 9-year-old girl was admitted to our hospital with gait instability, mild dysarthria, and sensorimotor polyneuropathy. Her genetic examination was consistent with FA. IFN-? treatment was started 3 times a week. The treatment was evaluated by physical examination and side effects assessment. Friedreich Ataxia Rating Scale (FARS), 9- hole peg test (9HPT), and time of 25-foot walk (T25FW) were measured. Ataxia and cerebellar findings improved within 9 months. Although clinical neurological improvement was achieved, there was no improvement in cardiomyopathy. © 2022 College of Physicians and Surgeons Pakistan. All rights reserved.