Bremova-Ertl Tatiana, Hofmann Jan, Stucki Janine, Vossenkaul Anja, Gautschi Matthias
Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, Switzerland.
Center for Rare Diseases, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, Switzerland.
Cells. 2023 Sep 19;12(18):2314. doi: 10.3390/cells12182314.
A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ataxias summarized by disease, highlighting novel clinical trials and emerging therapies with a particular emphasis on first-in-human gene therapies. We present disease-specific treatments if they exist and review the current evidence for symptomatic treatments of these highly heterogeneous diseases (where cerebellar ataxia is part of their phenotype) that aim to improve the disease burden and enhance quality of life. In general, a multimodal and holistic approach to the treatment of cerebellar ataxia, irrespective of etiology, is necessary to offer the best medical care. Physical therapy and speech and occupational therapy are obligatory. Genetic counseling is essential for making informed decisions about family planning.
许多遗传性共济失调是由先天性代谢缺陷（IEM）引起的，其中大多数在临床表现上具有高度异质性。及时诊断很重要，因为可能有针对特定疾病的治疗方法。在本综述中，我们按疾病对代谢性共济失调进行了全面概述，重点介绍了新的临床试验和新兴疗法，特别强调了首次人体基因疗法。如果存在针对特定疾病的治疗方法，我们会予以介绍，并回顾目前针对这些高度异质性疾病（小脑共济失调是其表型的一部分）的对症治疗证据，这些治疗旨在减轻疾病负担并提高生活质量。一般来说，无论病因如何，采用多模式和整体方法治疗小脑共济失调对于提供最佳医疗护理是必要的。物理治疗、言语和职业治疗是必不可少的。遗传咨询对于就计划生育做出明智决策至关重要。
