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Kristina Gotovac Jerčić, Antonela Blažeković, Sabina Borovečki, Fran Borovečki
Department for Personalized Medicine, University Hospital Center Zagreb, Zagreb, 10 000, Croatia.
Department for Anatomy and Clinical Anatomy, University of Zagreb School of Medicine, Zagreb, 10 000, Croatia.
J Neural Transm (Vienna). 2024 Nov;131(11):1277-1284. doi: 10.1007/s00702-024-02833-8. Epub 2024 Sep 19.
Parkinson's disease (PD) is a neurodegenerative disorder characterized by both motor and non-motor symptoms (NMS). NMS including sleep disturbances, depression, anxiety, and constipation are diverse, can precede motor symptoms, and significantly impact patients` quality of life. The severity and type of NMS vary based on age, disease severity, and motor symptoms, and while some respond to dopaminergic treatments, others may be induced or exacerbated by such treatments. NMS also play a role in differentiating PD from drug-induced parkinsonism and are related to gait dysfunction in both early and advanced stages. Genetic factors play a significant role in the development of NMS in PD, with mutations in genes such as SNCA, LRRK2, PRKN, and GBA being associated with severe and early NMS. Familial studies and identification of susceptibility factors have provided insights into the genetic underpinnings of NMS in PD. Neurobehavioral changes, including cognitive decline, are common NMS in PD, and their genetic basis involves a spectrum of mutations shared with other neurodegenerative disorders. Further research is needed to elucidate the functional implications of these genetic factors and their contributions to the pathogenesis of NMS in PD.
帕金森病（PD）是一种神经退行性疾病，其特征是既有运动症状，也有非运动症状（NMS）。NMS 包括睡眠障碍、抑郁、焦虑和便秘等多种症状，可能先于运动症状出现，并显著影响患者的生活质量。NMS 的严重程度和类型取决于年龄、疾病严重程度和运动症状，虽然有些对多巴胺能治疗有反应，但其他症状可能会被这种治疗引发或加重。NMS 在区分 PD 与药物诱导性帕金森病方面也起着重要作用，与早期和晚期的步态功能障碍有关。遗传因素在 PD 中 NMS 的发展中起着重要作用，SNCA、LRRK2、PRKN 和 GBA 等基因突变与严重和早期 NMS 有关。家族研究和易感因素的鉴定为 PD 中 NMS 的遗传基础提供了深入了解。神经行为改变，包括认知能力下降，是 PD 中常见的 NMS，其遗传基础涉及与其他神经退行性疾病共享的一系列突变。需要进一步研究来阐明这些遗传因素的功能意义及其对 PD 中 NMS 发病机制的贡献。
