Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas.
Department of Neurology, Alzheimer's Disease and Memory Disorders Center, Baylor College of Medicine, Houston, Texas.
Semin Neurol. 2023 Feb;43(1):48-64. doi: 10.1055/s-0043-1763511. Epub 2023 Feb 24.
A variety of etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. Therefore, the accurate diagnosis of the cause for cerebellar ataxia can be challenging. A step-wise investigation will reveal underlying causes, including nutritional, toxin, immune-mediated, genetic, and degenerative disorders. Recent advances in genetics have identified new genes for both autosomal dominant and autosomal recessive ataxias, and new therapies are on the horizon for targeting specific biological pathways. New diagnostic criteria for degenerative ataxias have been proposed, specifically for multiple system atrophy, which will have a broad impact on the future clinical research in ataxia. In this article, we aim to provide a review focus on symptoms, laboratory testing, neuroimaging, and genetic testing for the diagnosis of cerebellar ataxia causes, with a special emphasis on recent advances. Strategies for the management of cerebellar ataxia is also discussed.
多种病因均可导致小脑功能障碍，引发共济失调症状。因此，准确诊断小脑性共济失调的病因具有一定挑战性。通过逐步检查，可发现包括营养缺乏、毒素、免疫介导、遗传和退行性疾病等潜在病因。遗传学的最新进展已经确定了常染色体显性和常染色体隐性共济失调的新基因，针对特定生物通路的新疗法也即将面世。退行性共济失调的新诊断标准已经提出，特别是针对多系统萎缩，这将对未来的共济失调临床研究产生广泛影响。本文旨在重点综述小脑性共济失调病因的诊断，包括症状、实验室检查、神经影像学和基因检测，并特别强调最新进展。还讨论了小脑性共济失调的管理策略。
