Neurological Recovery with Interferon-gamma Treatment in Friedreichs Ataxia
Makaleler > Tam Makale · 2022
Yazarlar: Hande Gazeteci Tekin, Reşit Ertürk LEVENT
Journal of the College of Physicians and Surgeons Pakistan, Uluslararası, Wos, 2022, cilt 32, ss 671-673
DOI: 10.29271/jcpsp.2022.05.671
Özet
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-ɣ) 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-ɣ 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. Key Words: Interferon-gamma, Friedreich ataxia, FARS, Children, Cardiomyopathy.