Idrissi Sarah, Erro Roberto, Mascia Marcello Mario, Trinchillo Assunta, Esposito Marcello, Velucci Vittorio, Pellicciari Roberta, Ceravolo Roberto, Cotelli Maria Sofia, Schirinzi Tommaso, Cassano Daniela, Castagna Anna, Altavista Maria Concetta, Terranova Carmen, Magistrelli Luca, Belvisi Daniele, Ferrazzano Gina, Fabbrini Giovanni, Zibetti Maurizio, Barbero Pierangelo, Muroni Antonella, Pisani Antonio, Squintani Giovanna, Marinelli Lucio, Berardelli Alfredo, Defazio Giovanni
Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Piazza Giulio Cesare 11, 70124, Bari, Italy.
Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
J Neural Transm (Vienna). 2025 Apr 17. doi: 10.1007/s00702-025-02920-4.
The clinical characteristics of dystonia occurring in association with sporadic neurodegenerative parkinsonism have not been systematically explored or compared with those of idiopathic adult-onset dystonia. This study aims to compare demographic and clinical features, including the distribution of dystonia at onset, dystonia-associated features, and the propensity for spread between patients with combined dystonia-parkinsonism and those with idiopathic adult-onset dystonia. Patients were selected from the Italian Dystonia Registry. The study cohort included 130 patients with combined dystonia-parkinsonism and 355 age- and sex-matched patients with isolated adult-onset idiopathic dystonia. The comparison between combined dystonia-parkinsonism and idiopathic dystonia revealed differences in the distribution of dystonia across body regions, with non-task-specific upper limb dystonia, lower limb dystonia, and trunk dystonia occurring more frequently in patients with combined dystonia-parkinsonism. Additionally, this group exhibited a lower frequency of head tremor, eye symptoms associated with blepharospasm, and sensory tricks, alongside a comparable frequency of neck pain related to cervical dystonia and a family history of dystonia or tremor. The clinical presentation of dystonia differs between combined dystonia-parkinsonism and idiopathic dystonia, especially in terms of the body regions affected. These differences underscore the necessity for additional research and suggest underlying pathophysiological disparities between etiological categories that could significantly influence future diagnostics and therapeutic approaches.
与散发性神经退行性帕金森病相关的肌张力障碍的临床特征尚未得到系统研究，也未与特发性成人起病的肌张力障碍进行比较。本研究旨在比较合并肌张力障碍-帕金森病患者和特发性成人起病的肌张力障碍患者的人口统计学和临床特征，包括起病时肌张力障碍的分布、肌张力障碍相关特征以及扩散倾向。患者选自意大利肌张力障碍登记处。研究队列包括130例合并肌张力障碍-帕金森病的患者和355例年龄及性别匹配的孤立性成人起病特发性肌张力障碍患者。合并肌张力障碍-帕金森病与特发性肌张力障碍的比较显示，全身各部位肌张力障碍的分布存在差异，合并肌张力障碍-帕金森病的患者非任务特异性上肢肌张力障碍、下肢肌张力障碍和躯干肌张力障碍更为常见。此外，该组患者头部震颤、与眼睑痉挛相关的眼部症状和感觉技巧的发生率较低，而与颈部肌张力障碍相关的颈部疼痛发生率和肌张力障碍或震颤家族史发生率相当。合并肌张力障碍-帕金森病和特发性肌张力障碍的肌张力障碍临床表现不同，尤其是在受累身体部位方面。这些差异强调了进一步研究的必要性，并提示病因类别之间潜在的病理生理差异可能会显著影响未来的诊断和治疗方法。
