Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland.
School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Mov Disord. 2021 Mar;36(3):604-608. doi: 10.1002/mds.28454. Epub 2021 Jan 27.
In a recent workshop on "Defining research priorities in dystonia,", there was absolutely no reference to sex as a factor in disease pathogenesis. In this viewpoint paper, we argue that the most distinctive aspects of adult onset isolated focal dystonia are the marked sex-related differences demonstrated by epidemiological, clinical, and laboratory studies in patients with adult onset dystonia, particularly in cervical dystonia, the most common presentation. We propose that the future focus of research should be on neurobiological mechanisms underlying the profound sexual dimorphism in this disorder. Targeting research into gamma aminobutyric acid (GABA)ergic function, which also shows similar sexual dimorphism, would be most productive in elucidating the pathogenesis of adult onset dystonia. © 2021 International Parkinson and Movement Disorder Society.
在最近的一次关于“定义肌张力障碍研究重点”的研讨会上,完全没有提到性别是疾病发病机制的一个因素。在这篇观点文章中,我们认为,成人发病的局灶性肌张力障碍最显著的特征是,在流行病学、临床和实验室研究中,患者存在明显的与性别相关的差异,特别是在最常见的表现形式——颈肌张力障碍中。我们建议,未来的研究重点应该是这种疾病中存在的深刻性别二态性的神经生物学机制。针对γ-氨基丁酸(GABA)能功能的研究具有最大的成效,因为它也表现出类似的性别二态性,这将有助于阐明成人发病肌张力障碍的发病机制。