Department of Internal Medicine, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Department of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.
Cerebellum. 2024 Dec;23(6):2593-2606. doi: 10.1007/s12311-024-01730-w. Epub 2024 Aug 29.
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with a low prevalence, for which more than 50 types have been described. This group of neurodegenerative diseases can present as different phenotypes with varying progression rates and clinical manifestations of different severities. Herein, we systematically reviewed existing medical literature to describe the main characteristics of polyneuropathy in patients with SCA types 2, 3, and 10. Using relevant keywords, 16,972 articles were identified from the databases. Of these, 5,329 duplicate studies were excluded before screening. Subsequently, 11,643 studies underwent title and abstract review, of which only 49 were selected for full-text review. Among these, 24 studies were included. The medical literature suggests peripheral neuropathy - probably in a polyneuropathy phenotype - in SCA types 2 and 3. It is not possible to determine whether there is peripheral neuropathy in patients with SCA type 10, as there is only one case series in Mexico that described peripheral neuropathy in this group. Further studies are required to investigate peripheral neuropathy in patients with SCA types 2, 3, and 10. The study and description of a possible statistical association between CAG repeats and SARA scale scores with the presence of peripheral neuropathy are important points requiring assessment in future research.
脊髓小脑性共济失调(SCA)是一种常染色体显性遗传性疾病,发病率较低,已描述了 50 多种类型。这组神经退行性疾病可表现为不同的表型,具有不同的进展速度和不同严重程度的临床表现。在此,我们系统地回顾了现有的医学文献,以描述 SCA 类型 2、3 和 10 患者多发性神经病的主要特征。使用相关的关键词,从数据库中确定了 16972 篇文章。在筛选之前,排除了 5329 篇重复研究。随后,对 11643 篇研究进行了标题和摘要审查,其中仅选择了 49 篇进行全文审查。其中,24 项研究被纳入。医学文献表明 SCA 类型 2 和 3 存在周围神经病-可能为多发性神经病表型。尚无法确定 SCA 类型 10 患者是否存在周围神经病,因为在墨西哥仅有一项病例系列研究描述了该组患者的周围神经病。需要进一步研究来调查 SCA 类型 2、3 和 10 患者的周围神经病。研究和描述 CAG 重复与 SARA 量表评分与周围神经病存在之间的可能统计关联是未来研究中需要评估的重要要点。