帕金森病的非运动症状--遗传学的启示

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC ACS Applied Electronic Materials Pub Date : 2024-09-19 DOI:10.1007/s00702-024-02833-8
Kristina Gotovac Jerčić, Antonela Blažeković, Sabina Borovečki, Fran Borovečki
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引用次数: 0

摘要

帕金森病(PD)是一种以运动症状和非运动症状(NMS)为特征的神经退行性疾病。包括睡眠障碍、抑郁、焦虑和便秘在内的非运动症状多种多样,可先于运动症状出现,并严重影响患者的生活质量。NMS的严重程度和类型因年龄、疾病严重程度和运动症状而异,有些NMS对多巴胺能治疗有反应,而有些NMS则可能被此类治疗诱发或加重。NMS 在区分帕金森病和药物诱发的帕金森病方面也起着一定作用,并且与早期和晚期的步态功能障碍有关。遗传因素在帕金森病 NMS 的发展中起着重要作用,SNCA、LRRK2、PRKN 和 GBA 等基因的突变与严重和早期 NMS 有关。家族研究和易感因素的确定为了解帕金森病 NMS 的遗传基础提供了线索。包括认知能力下降在内的神经行为变化是常见的帕金森病 NMS,其遗传基础涉及与其他神经退行性疾病共有的一系列突变。要阐明这些遗传因素的功能意义及其对帕金森病 NMS 发病机制的贡献,还需要进一步的研究。
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Non-motor symptoms of Parkinson`s disease-insights from genetics

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.

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CiteScore
7.20
自引率
4.30%
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