Faculty of Medicine, Federal University of Alagoas, Campus Universitário. Avenida Lourival Melo Mota S/N. Tabuleiro dos Martins, Maceio, Alagoas, 57072-900, Brazil.
Department of Neuroscience, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Campus Universitário - Rua Bernardino de Campos, 1000 - Centro, Ribeirao Preto, SP, 65470-000, Brazil.
Cerebellum. 2021 Feb;20(1):21-30. doi: 10.1007/s12311-020-01170-2.
There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirão Preto, University of São Paulo. Twenty-seven SCA3 patients were submitted to a detailed clinical protocol, electroneuromyography, blood work up, polysomnography (PSG), suggested immobilization test (SIT), and magnetic resonance image (MRI). RLS/WED was found in 27.5% of SCA3 patients and 2.5% of normal controls (p = 0.003). The factors related to RLS/WED in SCA3 patients were female gender, age at start of the symptoms of ataxia after 30 years, presence of peripheral neuropathy, and documented iron deficiency. Among SCA3 patients, those with RLS showed higher values of maximal discomfort level and discomfort level sum compared to non-RLS individuals on SIT. There is a relation between RLS/WED and SCA3, which seems to be resultant of different factors whose identification could improve the quality of assistance to those patients as well as to promote a better comprehension of the pathophysiology of both RLS/WED and SCA3.
有证据表明，小脑共济失调 3 型（SCA3）患者中不宁腿综合征/ Willis-Ekbom 病（RLS/WED）的患病率较高，尽管其发病机制尚不清楚。本研究旨在确定 SCA3 患者中 RLS/WED 的患病率，并探讨哪些 SCA3 患者的因素与 RLS/WED 的存在有关。2006 年 2 月至 8 月，我们在圣保罗大学里贝朗普雷图医学院对 40 名对照者和 40 名 SCA3 患者进行了临床访谈。27 名 SCA3 患者接受了详细的临床方案、神经电生理学、血液检查、多导睡眠图（PSG）、建议的固定测试（SIT）和磁共振成像（MRI）检查。我们发现 27.5%的 SCA3 患者和 2.5%的正常对照组存在 RLS/WED（p=0.003）。与 SCA3 患者 RLS 相关的因素是女性、共济失调症状开始年龄大于 30 岁、周围神经病和铁缺乏症。在 SCA3 患者中，RLS 患者在 SIT 中的最大不适水平和不适水平总和值高于非 RLS 患者。RLS/WED 与 SCA3 之间存在相关性，这似乎是不同因素的结果，其识别可以提高对这些患者的护理质量，并促进对 RLS/WED 和 SCA3 的病理生理学的更好理解。
