Velucci Vittorio, Idrissi Sarah, Pellicciari Roberta, Esposito Marcello, Trinchillo Assunta, Belvisi Daniele, Fabbrini Giovanni, Ferrazzano Gina, Terranova Carmen, Girlanda Paolo, Majorana Giovanni, Rizzo Vincenzo, Bono Francesco, Idone Giovanni, Laterza Vincenzo, Avanzino Laura, Di Biasio Francesca, Marchese Roberta, Castagna Anna, Ramella Marina, Lettieri Christian, Rinaldo Sara, Altavista Maria Concetta, Polidori Luigi, Bertolasi Laura, Tozzi Maria Chiara, Erro Roberto, Barone Paolo, Barbero Pierangelo, Ceravolo Roberto, Mascia Marcello Mario, Ercoli Tommaso, Muroni Antonella, Artusi Carlo Alberto, Zibetti Maurizio, Scaglione Cesa Lorella Maria, Bentivoglio Anna Rita, Cotelli Maria Sofia, Magistrelli Luca, Cossu Giovanni, Albanese Alberto, Squintani Giovanna Maddalena, Schirinzi Tommaso, Gigante Angelo Fabio, Maderna Luca, Eleopra Roberto, Pisani Antonio, Cassano Daniela, Romano Marcello, Rizzo Marina, Berardelli Alfredo, Defazio Giovanni
Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy
Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
J Neurol Neurosurg Psychiatry. 2024 Jul 15;95(8):784-790. doi: 10.1136/jnnp-2023-332927.
Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread.
To provide accurate information on the relationship between sex differences, motor phenomenology, dystonia-associated features and the natural history of IAOD.
Data of 1701 patients with IAOD from the Italian Dystonia Registry were analysed.
Women predominated over men in blepharospasm, oromandibular, laryngeal and cervical dystonia; the sex ratio was reversed in task-specific upper limb dystonia; and no clear sex difference emerged in non-task-specific upper limb dystonia and lower limb dystonia. This pattern was present at disease onset and the last examination. Women and men did not significantly differ for several dystonia-associated features and tendency to spread. In women and men, the absolute number of individuals who developed dystonia tended to increase from 20 to 60 years and then declined. However, when we stratified by site of dystonia onset, different patterns of female-to-male ratio over time could be observed in the various forms of dystonia.
Our findings provide novel evidence on sex as a key mediator of IAOD phenotype at disease onset. Age-related sexual dimorphism may result from the varying exposures to specific age-related and sex-related environmental risk factors interacting in a complex manner with biological factors such as hormonal sex factors.
多项早期研究表明，在影响颅颈区域的特发性成人起病肌张力障碍（IAOD）中女性占优势，而在肢体肌张力障碍中男性占优势。然而，性别相关差异可能源于研究设计中固有的偏差。此外，关于在表达其他肌张力障碍相关特征和肌张力障碍扩散方面是否存在性别相关差异的信息尚缺。
提供关于性别差异、运动现象学、肌张力障碍相关特征与IAOD自然史之间关系的准确信息。
分析了意大利肌张力障碍登记处1701例IAOD患者的数据。
在眼睑痉挛、口下颌肌张力障碍、喉肌张力障碍和颈部肌张力障碍中女性多于男性；在特定任务性上肢肌张力障碍中性别比相反；在非特定任务性上肢肌张力障碍和下肢肌张力障碍中未出现明显的性别差异。这种模式在疾病发作时和最后一次检查时均存在。在几种肌张力障碍相关特征和扩散倾向方面，女性和男性没有显著差异。在女性和男性中，出现肌张力障碍的个体绝对数量往往从20岁到60岁增加，然后下降。然而，当我们按肌张力障碍发作部位分层时，在各种形式的肌张力障碍中可观察到随时间变化的不同男女比例模式。
我们的研究结果为性别作为IAOD发病时表型的关键调节因素提供了新证据。与年龄相关的性别二态性可能源于对特定年龄相关和性别相关环境风险因素的不同暴露，这些因素与激素性别的生物学因素等以复杂方式相互作用。
