Yang Wenyao, Thompson Bruce, Kwa Faith A A
School of Health Sciences, Swinburne University of Technology, Hawthorn, VIC, Australia.
Melbourne School of Health Sciences, The University of Melbourne, Parkville, VIC, Australia.
Front Nutr. 2025 Apr 24;12:1548821. doi: 10.3389/fnut.2025.1548821. eCollection 2025.
Hereditary ataxia (HA) is a diverse group of rare inherited neurological disorders characterised by cerebellar impairment and the progressive degeneration of spinocerebellar tracts and the spinal cord. These conditions manifest predominantly as unsteady gait, speech difficulties, dysphagia and motor skill impairment. The complex genetic causes and varied disease mechanisms underlying HA contribute to the multi-systemic symptoms which pose challenges in developing targeted effective treatments. Currently, available options for HA primarily focus on symptomatic management, highlighting a critical need for complementary therapeutic strategies, such as dietary and lifestyle interventions. This review explains recent findings on dietary and nutraceutical interventions, as well as lifestyle modifications such as exercise and rehabilitation programs for HA. It outlines common types of HA, including Friedreich ataxia, spinocerebellar ataxias, ataxia with vitamin E deficiency, ataxia-telangiectasia, and studies on a mixed cohort of patients with HA. The current management options, therapeutic implications of findings from pre-clinical and clinical data and future directions to advance the treatment of HA will also be discussed. The integration of nutraceuticals and rehabilitation programs with current methods of symptomatic management is encouraged for the holistic treatment of HA. These interventions will complement the use of various technological aids with the support of a multidisciplinary health and medical team to improve monitoring of the health status and disease progression of affected individuals; thus facilitating early treatment and an optimised clinical outcome.
遗传性共济失调(HA)是一组罕见的遗传性神经系统疾病,其特征为小脑功能障碍以及脊髓小脑束和脊髓的进行性退化。这些病症主要表现为步态不稳、言语困难、吞咽困难和运动技能受损。HA复杂的遗传病因和多样的疾病机制导致了多系统症状,这给开发有针对性的有效治疗方法带来了挑战。目前,HA的现有治疗选择主要集中在对症治疗上,这突出表明迫切需要补充性治疗策略,如饮食和生活方式干预。本综述解释了关于HA的饮食和营养补充剂干预以及运动和康复计划等生活方式改变的最新研究结果。它概述了HA的常见类型,包括弗里德赖希共济失调、脊髓小脑共济失调、维生素E缺乏性共济失调、共济失调毛细血管扩张症,以及对HA患者混合队列的研究。还将讨论当前的治疗选择、临床前和临床数据研究结果的治疗意义以及推进HA治疗的未来方向。鼓励将营养补充剂和康复计划与当前的对症治疗方法相结合,以对HA进行整体治疗。这些干预措施将在多学科健康和医疗团队的支持下,补充各种技术辅助手段的使用,以改善对受影响个体健康状况和疾病进展的监测;从而促进早期治疗并实现优化的临床结果。