Kong Yu, Yao Lei, Xiao Xiangyu, Chen Anqiang, Wang Kexin, Yan Huan, Sun Ran, Liu Ruihan, Kong Qingxia
Medical Imaging Department, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272000, People's Republic of China.
Clinical Medical College, Jining Medical University, Jining, Shandong, 272000, People's Republic of China.
Neuropsychiatr Dis Treat. 2025 Jan 22;21:79-92. doi: 10.2147/NDT.S498644. eCollection 2025.
The clinical pictures of essential tremor (ET) and Parkinson's disease (PD) are often quite mimic at the early stage, and longstanding ET may ultimately develop to PD, that is, PD with "antecedent ET". Early diagnosis and differentiation of the two are essential for predicting disease progression and formulating individualized treatment plans. However, current approaches remain challenging. This study aimed at determining the morphological, microstructural and iron-related changes in these patients' brains using multimodal magnetic resonance imaging (MRI).
We reviewed a kindred with ET and PD with "antecedent ET" recruited at our hospital in May 2023. The clinical characteristics, genetic testing and multimodal MRI data of 16 family members were collected. Multimodal MRI analysis included structural MRI, diffusion tensor imaging (DTI) and tractography, and quantitative susceptibility mapping (QSM).
Two second-generation family members diagnosed PD had ET history before PD performance appeared, five third-generation family members were diagnosed with ET. Fifteen of the 16 cases had missense mutation in the EIF4G1 gene. Temporal and spatial features of morphology and iron deposition in different brain regions were heterogeneous. DTI showed that the cerebello-thalamo-motor cortical network was involved in both ET and PD cases, and the additional nigrostriatal-thalamo-motor cortical network was involved in PD cases.
The combination of morphometric imaging, DTI and QSM could be used as an imaging biomarker for ET and PD diagnosis and could be an effective tool for longitudinal monitoring of disease progression and transformation.
特发性震颤（ET）和帕金森病（PD）的临床表现早期常十分相似，且长期的ET最终可能发展为PD，即伴有“既往ET”的PD。早期诊断和鉴别这两种疾病对于预测疾病进展和制定个体化治疗方案至关重要。然而，目前的方法仍具有挑战性。本研究旨在使用多模态磁共振成像（MRI）确定这些患者大脑中的形态学、微观结构和铁相关变化。
我们回顾了2023年5月在我院招募的一个患有ET以及伴有“既往ET”的PD的家系。收集了16名家庭成员的临床特征、基因检测和多模态MRI数据。多模态MRI分析包括结构MRI、扩散张量成像（DTI）及纤维束成像，以及定量磁化率图谱（QSM）。
两名被诊断为PD的第二代家庭成员在出现PD表现之前有ET病史，五名第三代家庭成员被诊断为ET。16例中有15例在EIF4G1基因存在错义突变。不同脑区形态和铁沉积的时空特征存在异质性。DTI显示，ET和PD病例均累及小脑-丘脑-运动皮层网络，而PD病例还累及额外的黑质纹状体-丘脑-运动皮层网络。
形态测量成像、DTI和QSM的联合应用可作为ET和PD诊断的影像学生物标志物，并且可能是纵向监测疾病进展和转变的有效工具。
