Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia.
Neurol Neurochir Pol. 2018 Mar;52(2):129-139. doi: 10.1016/j.pjnns.2018.02.003. Epub 2018 Feb 19.
Friedreich ataxia (FRDA) is a progressive neurological disorder affecting approximately 1 in 29,000 individuals of European descent. At present, there is no approved pharmacological treatment for this condition however research into treatment of FRDA has advanced considerably over the last two decades since the genetic cause was identified. Current proposed treatment strategies include decreasing oxidative stress, increasing cellular frataxin, improving mitochondrial function as well as modulating frataxin controlled metabolic pathways. Genetic and cell based therapies also hold great promise. Finally, physical therapies are being explored as a means of maximising function in those affected by FRDA.
弗里德赖希共济失调（FRDA）是一种进行性神经系统疾病，影响约每 29000 名欧洲血统个体中的 1 名。目前，尚无针对这种疾病的批准的药物治疗方法，但是自确定遗传原因以来，过去二十年中对 FRDA 的治疗研究已经取得了相当大的进展。目前提出的治疗策略包括减少氧化应激，增加细胞内 frataxin，改善线粒体功能以及调节 frataxin 控制的代谢途径。基因和细胞疗法也具有很大的潜力。最后，正在探索物理疗法作为一种最大限度地提高 FRDA 患者功能的手段。
