Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, General Carneiro, 181, Curitiba, PR, 80060-900, Brazil.
Department of Medicine, Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.
Cerebellum. 2017 Dec;16(5-6):938-944. doi: 10.1007/s12311-017-0869-2.
Nonmotor symptoms (NMS) have been described in several neurodegenerative diseases but have not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10). The objective of the study is to compare the frequency of NMS in patients with SCA10, Machado-Joseph disease (MJD), and healthy controls. Twenty-eight SCA10, 28 MJD, and 28 healthy subjects were prospectively assessed using validated screening tools for chronic pain, autonomic symptoms, fatigue, sleep disturbances, psychiatric disorders, and cognitive function. Chronic pain was present with similar prevalence among SCA10 patients and healthy controls but was more frequent in MJD. Similarly, autonomic symptoms were found in SCA10 in the same proportion of healthy individuals, while the MJD group had higher frequencies. Restless legs syndrome and REM sleep behavior disorder were uncommon in SCA10. The mean scores of excessive daytime sleepiness were worse in the SCA10 group. Scores of fatigue were higher in the SCA10 sample compared to healthy individuals, but better than in the MJD. Psychiatric disorders were generally more prevalent in both spinocerebellar ataxias than among healthy controls. The cognitive performance of healthy controls was better compared with SCA10 patients and MJD, which showed the worst scores. Although NMS were present among SCA10 patients in a higher proportion compared to healthy controls, they were more frequent and severe in MJD. In spite of these comparisons, we were able to identify NMS with significant functional impact in patients with SCA10, indicating the need for their systematic screening aiming at optimal treatment and improvement in quality of life.
非运动症状（NMS）已在几种神经退行性疾病中描述过，但尚未在脊髓小脑性共济失调 10 型（SCA10）中进行系统评估。本研究的目的是比较 SCA10、马查多-约瑟夫病（MJD）患者和健康对照者中 NMS 的频率。28 例 SCA10、28 例 MJD 和 28 例健康受试者前瞻性使用慢性疼痛、自主症状、疲劳、睡眠障碍、精神障碍和认知功能的验证筛选工具进行评估。慢性疼痛在 SCA10 患者和健康对照者中的发生率相似，但在 MJD 中更为常见。同样，自主症状在 SCA10 中与健康个体的比例相同，而 MJD 组的频率更高。不安腿综合征和 REM 睡眠行为障碍在 SCA10 中不常见。白天过度嗜睡的平均得分在 SCA10 组中更差。与健康个体相比，SCA10 样本的疲劳评分更高，但优于 MJD。与健康对照组相比，精神障碍在两种脊髓小脑性共济失调中更为普遍。与 SCA10 患者和 MJD 相比，健康对照组的认知表现更好，后者得分最差。尽管与健康对照组相比，SCA10 患者中 NMS 的比例更高，但在 MJD 中更为频繁和严重。尽管进行了这些比较，但我们能够在 SCA10 患者中识别出具有显著功能影响的 NMS，这表明需要对其进行系统筛查，以实现最佳治疗和提高生活质量。
