Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Neurodegener Dis. 2011;8(6):447-54. doi: 10.1159/000324374. Epub 2011 Apr 15.
Sleep disturbances are common features in spinocerebellar ataxias (SCAs). Nevertheless, sleep data on SCA2 come from scarce studies including few patients, limiting the evaluation of the prevalence and determinants of sleep disorders.
To assess the frequency and possible determinants of sleep disorders in the large and homogeneous SCA2 Cuban population.
Thirty-two SCA2 patients and their age- and sex-matched controls were studied by video-polysomnography and sleep interviews.
The most striking video-polysomnography features were rapid eye movement (REM) sleep pathology and periodic leg movements (PLMs). REM sleep abnormalities included a consistent reduction of the REM sleep percentage and REM density as well as an increase in REM sleep without atonia (RWA). REM sleep and REM density decreases were closely related to the increase in ataxia scores, whereas the RWA percentage was influenced by the cytosine-adenine-guanine (CAG) repeats. PLMs were observed in 37.5% of cases. The PLM index showed a significant association with the ataxia score and disease duration but not with CAG repeats.
REM sleep pathology and PLMs are closely related to SCA2 severity, suggesting their usefulness as disease progression markers. The RWA percentage is influenced by the CAG repeats and might thus be a sensitive parameter for reflecting polyglutamine toxicity. Finally, as PLMs are sensible to drug treatment, they represents a new therapeutic target for the symptomatic treatment of SCA2.
睡眠障碍是脊髓小脑共济失调症（SCA）的常见特征。然而，SCA2 的睡眠数据来自少数研究，包括少数患者，限制了对睡眠障碍的患病率和决定因素的评估。
评估大规模、同质的古巴 SCA2 人群中睡眠障碍的频率和可能的决定因素。
通过视频多导睡眠图和睡眠访谈研究了 32 名 SCA2 患者及其年龄和性别匹配的对照组。
最引人注目的视频多导睡眠图特征是快速眼动（REM）睡眠病理学和周期性肢体运动（PLMs）。REM 睡眠异常包括 REM 睡眠百分比和 REM 密度的持续减少，以及 REM 睡眠无动性（RWA）的增加。REM 睡眠和 REM 密度的减少与共济失调评分的增加密切相关，而 RWA 百分比受胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复的影响。PLMs 在 37.5%的病例中观察到。PLM 指数与共济失调评分和疾病持续时间显著相关，但与 CAG 重复无关。
REM 睡眠病理学和 PLMs 与 SCA2 严重程度密切相关，表明它们可作为疾病进展的标志物。RWA 百分比受 CAG 重复的影响，因此可能是反映多聚谷氨酰胺毒性的敏感参数。最后，由于 PLMs 对药物治疗敏感，因此它们代表了 SCA2 症状治疗的新治疗靶点。
