Tsuboi Takashi, Uematsu Takashi, Sawada Keito, Higuchi Moeka, Hashida Miki, Muto Manabu, Ito Yoshiki, Ishizaki Tomotaka, Kato Sachiko, Nakatsubo Daisuke, Tsugawa Takahiko, Maesawa Satoshi, Saito Yuki, Fukushima Taiki, Tamakoshi Daigo, Hiraga Keita, Suzuki Masashi, Saito Ryuta, Ramirez-Zamora Adolfo, Okun Michael S, Katsuno Masahisa
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya, 466-8550, Japan.
Norman Fixel Institute for Neurological Diseases, University of Florida Health, Gainesville, FL, USA.
J Neural Transm (Vienna). 2025 May 20. doi: 10.1007/s00702-025-02941-z.
The 2018 Movement Disorder Society classification introduced essential tremor plus (ETP) as a category for patients with essential tremor (ET) accompanied by additional features of uncertain significance. While earlier studies have characterized clinical features of ETP, the factors that characterize the phenotypic expression of ETP remain unclear. We prospectively evaluated 70 consecutive patients with ET or ETP. Clinical and neurophysiological assessments included tremor severity (Clinical Rating Scale for Tremor, CRST), cognitive functions (Addenbrooke's Cognitive Examination Revised, ACE-R), and accelerometric analysis. Statistical analyses examined between-group differences and factors influencing tremor characteristics. The prevalence of ETP (61%) exceeded that of ET. Among ETP patients, 77% exhibited two or more additional motor and/or cognitive features. Compared to ET patients, ETP patients demonstrated significantly higher tremor severity, lower tremor frequency, older age at assessment and onset, and poorer cognitive function, despite comparable disease duration. The accelerometric analysis revealed similar tremor patterns in both groups with quantitative differences in tremor amplitude and frequency. The propensity score matching and multiple regression analyses suggested that tremor severity and frequency are more influenced by age than by disease duration or diagnostic classification of ET/ETP. ACE-R score and the presence of resting tremor were also significant predictors of tremor severity. ETP represents a heterogeneous population with diverse neurological features, and age is likely a key determinant of severity and phenotypic expression. Comprehensive analysis is needed to identify other factors that may determine phenotype and treatment responsiveness.
2018年运动障碍协会分类引入了“特发性震颤叠加型(ETP)”,用于描述伴有其他意义不明特征的特发性震颤(ET)患者。虽然早期研究已对ETP的临床特征进行了描述,但决定ETP表型表达的因素仍不清楚。我们对70例连续的ET或ETP患者进行了前瞻性评估。临床和神经生理学评估包括震颤严重程度(震颤临床评分量表,CRST)、认知功能(修订版Addenbrooke认知检查,ACE-R)和加速度计分析。统计分析检查了组间差异以及影响震颤特征的因素。ETP的患病率(61%)超过了ET。在ETP患者中,77%表现出两种或更多其他运动和/或认知特征。与ET患者相比,尽管病程相当,但ETP患者的震颤严重程度显著更高,震颤频率更低,评估和发病时年龄更大,认知功能更差。加速度计分析显示两组的震颤模式相似,但在震颤幅度和频率上存在定量差异。倾向评分匹配和多元回归分析表明,震颤严重程度和频率受年龄的影响大于病程或ET/ETP的诊断分类。ACE-R评分和静止性震颤的存在也是震颤严重程度的重要预测因素。ETP代表了一个具有多种神经学特征的异质性群体,年龄可能是严重程度和表型表达的关键决定因素。需要进行综合分析以确定其他可能决定表型和治疗反应性的因素。