Zhou Lu, Tian Yun, Zhang Sizhe, Jiao Bin, Liao Xinxin, Zhou Yafang, Xiao Qiao, Xue Jin, Duan Ranhui, Tang Beisha, Shen Lu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Front Neurol. 2023 Jun 14;14:1168904. doi: 10.3389/fneur.2023.1168904. eCollection 2023.
This study aimed to investigate the features of autonomic dysfunction (AutD) in a large cohort of patients with neuronal intranuclear inclusion disease (NIID).
A total of 122 patients with NIID and 122 controls were enrolled. All participants completed the Scales for Outcomes in Parkinson's Disease-Autonomic Questionnaire (SCOPA-AUT) and genetic screening for GGC expanded repeats within the gene. All patients underwent neuropsychological and clinical assessments. SCOPA-AUT was performed to compare AutD between patients and controls. The associations between AutD and disease-related characteristics of NIID were studied.
94.26% of patients had AutD. Compared with controls, patients had more severe AutD in total SCOPA-AUT, gastrointestinal, urinary, cardiovascular, thermoregulatory, pupillomotor and sexual domains (all < 0.05). The area under the curve (AUC) value for the total SCOPA-AUT (AUC = 0.846, sensitivity = 69.7%, specificity = 85.2%, cutoff value = 4.5) was high in differentiating AtuD of patients with NIID from controls. The total SCOPA-AUT was significantly and positively associated with age ( = 0.185, = 0.041), disease duration ( = 0.207, = 0.022), Neuropsychiatric Inventory (NPI) ( = 0.446, < 0.01), and Activities of Daily Living (ADL) ( = 0.390, < 0.01). Patients with onset-of-AutD had higher SCOPA-AUT scores than patients without onset-of-AutD ( < 0.001), especially in the urinary system ( < 0.001) and male sexual dysfunction ( < 0.05).
SCOPA-AUT can be used as a diagnostic and quantitative tool for autonomic dysfunction in NIID. The high prevalence of AutD in patients suggests that NIID diagnosis should be considered in patients with AutD, especially in those with unexplained AutD alone. AutD in patients is related to age, disease duration, impairment of daily living ability, and psychiatric symptoms.
本研究旨在调查一大群神经元核内包涵体病（NIID）患者的自主神经功能障碍（AutD）特征。
共纳入122例NIID患者和122例对照。所有参与者均完成帕金森病自主神经问卷结果量表（SCOPA - AUT）以及针对该基因内GGC扩展重复序列的基因筛查。所有患者均接受神经心理学和临床评估。进行SCOPA - AUT以比较患者与对照之间的AutD情况。研究AutD与NIID疾病相关特征之间的关联。
94.26%的患者存在AutD。与对照相比，患者在SCOPA - AUT总分、胃肠道、泌尿、心血管、体温调节、瞳孔运动和性功能领域的AutD更严重（均P < 0.05）。SCOPA - AUT总分的曲线下面积（AUC）值（AUC = 0.846，敏感性 = 69.7%，特异性 = 85.2%，临界值 = 4.5）在区分NIID患者与对照的AutD方面较高。SCOPA - AUT总分与年龄（r = 0.185，P = 0.041）、病程（r = 0.207，P = 0.022）、神经精神科问卷（NPI）（r = 0.446，P < 0.01）以及日常生活活动能力（ADL）（r = 0.390，P < 0.01）显著正相关。有AutD起病的患者SCOPA - AUT评分高于无AutD起病的患者（P < 0.001），尤其是在泌尿系统（P < 0.001）和男性性功能障碍方面（P < 0.05）。
SCOPA - AUT可作为NIID自主神经功能障碍的诊断和定量工具。患者中AutD的高患病率表明，对于有AutD的患者，尤其是仅有无原因AutD的患者，应考虑NIID诊断。患者的AutD与年龄、病程、日常生活能力损害和精神症状有关。
