Li Lizhi, Huang Juanjuan, Xiang Yaqin, Zhang Xuxiang, Xu Qian, Sun Qiying, Liu Zhenhua, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jifeng
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Radiology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
CNS Neurosci Ther. 2025 Jul;31(7):e70549. doi: 10.1111/cns.70549.
The study aimed to investigate the role of NUS1 variants in Parkinson's disease (PD) progression and evaluate plasma Nogo-B receptor (NgBR) as a potential biomarker.
We recruited 228 PD patients, including 38 with NUS1 variants (NUS1-PD) and 190 without (GU-PD), and all underwent at least two follow-up visits. Linear mixed-effects models assessed motor and non-motor symptom progression. Plasma NgBR levels were measured in PD, Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP), and healthy controls (HC), and receiver operating characteristic curve analysis evaluated its diagnostic efficacy.
NUS1-PD demonstrated an earlier age at onset and more severe motor features than GU-PD at baseline. Longitudinal analyses showed similar progression rates of UPDRS III and H&Y stage (off-medication) in NUS1-PD and GU-PD, but a slower progression rate of urinary function in NUS1-PD (p = 0.024). Plasma NgBR levels were higher in PD than in HC, MSA, and PSP, with AUC values of 0.6832, 0.6716, and 0.6628, respectively. Plasma NgBR was associated with UPDRS III (p = 0.006) and cognitive impairment (p = 0.010).
NUS1 variants show no impact on PD progression, while plasma NgBR may serve as a potential biomarker for PD diagnosis and clinical characteristics.
本研究旨在探讨NUS1基因变异在帕金森病（PD）进展中的作用，并评估血浆Nogo-B受体（NgBR）作为潜在生物标志物的价值。
我们招募了228例PD患者，其中38例携带NUS1基因变异（NUS1-PD），190例未携带（GU-PD），所有患者均至少接受了两次随访。采用线性混合效应模型评估运动和非运动症状的进展。检测了PD、多系统萎缩（MSA）、进行性核上性麻痹（PSP）患者及健康对照（HC）的血浆NgBR水平，并通过受试者工作特征曲线分析评估其诊断效能。
在基线时，NUS1-PD患者的发病年龄较早，运动特征比GU-PD患者更严重。纵向分析显示，NUS1-PD和GU-PD患者的非药物状态下统一帕金森病评定量表第三部分（UPDRS III）评分和 Hoehn-Yahr（H&Y）分期进展率相似，但NUS1-PD患者的尿功能进展率较慢（p = 0.024）。PD患者的血浆NgBR水平高于HC、MSA和PSP患者，其曲线下面积（AUC）值分别为0.6832、0.6716和0.6628。血浆NgBR与UPDRS III评分（p = 0.ooo6）和认知障碍（p = 0.010）相关。
NUS1基因变异对PD进展无影响，而血浆NgBR可能作为PD诊断及临床特征的潜在生物标志物。
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