Characteristics of autonomic dysfunction in neuronal intranuclear inclusion disease

作者：Lu Zhou, Yun Tian, Sizhe Zhang, Bin Jiao, Xinxin Liao, Yafang Zhou, Qiao Xiao, Jin Xue, Ranhui Duan, Beisha Tang, Lu Shen · 发表于：Frontiers in Neurology · 年份：2023 · DOI：10.3389/fneur.2023.1168904 · 被引用次数：11 · 研究领域：Genetic Neurodegenerative Diseases、Neurological disorders and treatments、Parkinson's Disease Mechanisms and Treatments

Background This study aimed to investigate the features of autonomic dysfunction (AutD) in a large cohort of patients with neuronal intranuclear inclusion disease (NIID). Methods 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 NOTCH2NLC 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. Results 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 p < 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 ( r = 0.185, p = 0.041), disease duration ( r = 0.207, p = 0.022), Neuropsychiatric Inventory (NPI) ( r = 0.446, p < 0.01), and Activities of Daily Living (ADL) ( r = 0.390, p < 0.01). Patients with onset-of-AutD had higher SCOPA-AUT scores than patients without onset-of-AutD ( p < 0.001), especially in the urinary...