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文献精选 > 近10年高引"帕金森病"文献

Parkinson's disease. ​

文献信息 ​

DOI10.1016/S0140-6736(21)00218-X
PMID33848468
期刊Lancet (London, England)
发表年份2021
被引次数1342
文献类型Journal Article, Review
ISSN0140-6736
页码2284-2303
期号397(10291)
作者Bastiaan R Bloem, Michael S Okun, Christine Klein

一句话小结 ​

帕金森病是一种快速增长的神经退行性疾病，其发病率上升与多种遗传和环境因素相关，特别是3-5%的病例与已知帕金森病基因有关。研究强调个性化管理的重要性，并提出通过多学科合作和新治疗策略来优化患者的预后和生活质量。

摘要 ​

帕金森病是一种可识别的临床综合征，具有多种病因和临床表现。帕金森病是一种快速增长的神经退行性疾病；其在全球范围内的发病率上升类似于典型流行病的许多特征，但并非由传染性原因引起。在大多数人群中，3-5%的帕金森病可归因于与已知帕金森病基因相关的遗传原因，因此代表了单基因性帕金森病，而90个遗传风险变异共同解释了16-36%非单基因性帕金森病的遗传风险。其他因果关联包括有亲属患有帕金森病或震颤、便秘以及不吸烟，每种情况都至少使帕金森病的风险加倍。帕金森病的诊断主要基于临床表现；辅助检查仅针对表现不典型的患者。目前的标准将帕金森病定义为存在运动迟缓，并伴有静止性震颤、僵硬或两者兼具。然而，临床表现是多方面的，包括许多非运动症状。预后咨询应基于对疾病亚型的认识。临床表现的帕金森病通常在一个可能较长的前驱期之前出现。目前，前驱症状的确认在临床上没有其他意义，除了症状的抑制，尽管识别前驱性帕金森病在疾病改变治疗可用时可能会产生影响。治疗目标因人而异，强调了个性化管理的必要性。在因帕金森病而导致残疾的人群中，没有理由延迟症状治疗。左旋多巴是作为一线治疗的最常用药物。最佳管理应在诊断时开始，并需要多学科团队的合作，包括越来越多的非药物干预措施。目前，没有治疗可以减缓或阻止帕金森病的进展，但基于对遗传原因和神经元死亡机制的新见解，几种有前景的策略正在被测试以评估其疾病改变的潜力。在本次研讨会中，以帕金森病患者的视角作为贯穿的“红线”，我们将展示如何优化帕金森病的个性化管理。

英文摘要 ​

Parkinson's disease is a recognisable clinical syndrome with a range of causes and clinical presentations. Parkinson's disease represents a fast-growing neurodegenerative condition; the rising prevalence worldwide resembles the many characteristics typically observed during a pandemic, except for an infectious cause. In most populations, 3-5% of Parkinson's disease is explained by genetic causes linked to known Parkinson's disease genes, thus representing monogenic Parkinson's disease, whereas 90 genetic risk variants collectively explain 16-36% of the heritable risk of non-monogenic Parkinson's disease. Additional causal associations include having a relative with Parkinson's disease or tremor, constipation, and being a non-smoker, each at least doubling the risk of Parkinson's disease. The diagnosis is clinically based; ancillary testing is reserved for people with an atypical presentation. Current criteria define Parkinson's disease as the presence of bradykinesia combined with either rest tremor, rigidity, or both. However, the clinical presentation is multifaceted and includes many non-motor symptoms. Prognostic counselling is guided by awareness of disease subtypes. Clinically manifest Parkinson's disease is preceded by a potentially long prodromal period. Presently, establishment of prodromal symptoms has no clinical implications other than symptom suppression, although recognition of prodromal parkinsonism will probably have consequences when disease-modifying treatments become available. Treatment goals vary from person to person, emphasising the need for personalised management. There is no reason to postpone symptomatic treatment in people developing disability due to Parkinson's disease. Levodopa is the most common medication used as first-line therapy. Optimal management should start at diagnosis and requires a multidisciplinary team approach, including a growing repertoire of non-pharmacological interventions. At present, no therapy can slow down or arrest the progression of Parkinson's disease, but informed by new insights in genetic causes and mechanisms of neuronal death, several promising strategies are being tested for disease-modifying potential. With the perspective of people with Parkinson's disease as a so-called red thread throughout this Seminar, we will show how personalised management of Parkinson's disease can be optimised.

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主要研究问题 ​

  1. 除了经典的运动症状，帕金森病的非运动症状有哪些临床表现？
  2. 在帕金森病的病理机制中，除了路易小体，哪些其他蛋白质聚集体可能起到重要作用？
  3. 当前对于帕金森病的遗传和环境因素的研究有哪些新进展？
  4. 帕金森病的早期诊断面临哪些具体挑战？有没有新的技术或方法可以改善这一点？
  5. 在管理帕金森病的症状时，现有的治疗方法有哪些局限性？未来可能的治疗方向是什么？

核心洞察 ​

  1. 研究背景和目的
    帕金森病是一种可识别的临床综合症，具有多种病因和临床表现。该病作为一种快速增长的神经退行性疾病，其全球发病率上升的趋势类似于典型的流行病特征，但并没有传染性原因。研究的目的在于深入了解帕金森病的遗传因素、临床表现以及个性化管理的重要性，进而为临床诊断和治疗提供指导。

  2. 主要方法和发现
    研究表明，帕金森病中约有3-5%的病例由已知的遗传基因引起，属于单基因帕金森病；而90个遗传风险变异体共同解释了非单基因帕金森病16-36%的遗传风险。与家族有帕金森病或震颤病史、便秘以及非吸烟者相关的因素均显著增加患病风险。诊断主要依赖临床表现，尤其是运动症状如运动迟缓，并伴随静息性震颤或僵直。病症的多样化表现包括许多非运动症状，且临床上表现的帕金森病通常在一个潜在的较长的前驱期后显现。

  3. 核心结论
    目前，帕金森病的治疗目标因人而异，强调个性化管理的必要性。虽然没有治疗可以减缓或阻止疾病的进展，但基于对遗传原因和神经细胞死亡机制的新见解，多个有前景的策略正在被测试。首选药物为左旋多巴，治疗应从诊断时开始，并需要多学科团队的协作。

  4. 研究意义和影响
    本研究强调了在帕金森病管理中进行个性化治疗的重要性，特别是在诊断早期采取干预措施。识别前驱症状虽然目前临床意义有限，但未来可能对疾病修正治疗产生深远影响。随着对疾病特征的进一步了解和新的治疗策略的探索，本研究为改善患者的生活质量和管理策略提供了重要的理论支持和实践指导。

引用本文的文献 ​

  1. The Importance of Drosophila melanogaster Research to UnCover Cellular Pathways Underlying Parkinson's Disease. - Melissa Vos;Christine Klein - Cells (2021)
  2. The state of telemedicine for persons with Parkinson's disease. - Robin van den Bergh;Bastiaan R Bloem;Marjan J Meinders;Luc J W Evers - Current opinion in neurology (2021)
  3. Proteolytic α-Synuclein Cleavage in Health and Disease. - Alexandra Bluhm;Sarah Schrempel;Stephan von Hörsten;Anja Schulze;Steffen Roßner - International journal of molecular sciences (2021)
  4. Parkinson's Disease in Romania: A Scoping Review. - Elena Cecilia Rosca;Raluca Tudor;Amalia Cornea;Mihaela Simu - Brain sciences (2021)
  5. Ethical Aspects of Personal Science for Persons with Parkinson's Disease: What Happens When Self-Tracking Goes from Selfcare to Publication? - Sara Riggare;Maria Hägglund;Annelien L Bredenoord;Martijn de Groot;Bastiaan R Bloem - Journal of Parkinson's disease (2021)
  6. From blood to brain: blood cell-based biomimetic drug delivery systems. - Yong-Jiang Li;Jun-Yong Wu;Jihua Liu;Xiaohan Qiu;Wenjie Xu;Tiantian Tang;Da-Xiong Xiang - Drug delivery (2021)
  7. Integrated network analysis identifying potential novel drug candidates and targets for Parkinson's disease. - Pusheng Quan;Kai Wang;Shi Yan;Shirong Wen;Chengqun Wei;Xinyu Zhang;Jingwei Cao;Lifen Yao - Scientific reports (2021)
  8. Moving towards Integrated and Personalized Care in Parkinson's Disease: A Framework Proposal for Training Parkinson Nurses. - Marlena van Munster;Johanne Stümpel;Franziska Thieken;David J Pedrosa;Angelo Antonini;Diane Côté;Margherita Fabbri;Joaquim J Ferreira;Evžen Růžička;David Grimes;Tiago A Mestre - Journal of personalized medicine (2021)
  9. Predictors of Global Non-Motor Symptoms Burden Progression in Parkinson's Disease. Results from the COPPADIS Cohort at 2-Year Follow-Up. - Diego Santos-García;Teresa de Deus;Carlos Cores;Hector Canfield;Jose M Paz González;Cristina Martínez Miró;Lorena Valdés Aymerich;Ester Suárez;Silvia Jesús;Miquel Aguilar;Pau Pastor;Lluis Planellas;Marina Cosgaya;Juan García Caldentey;Nuria Caballol;Ines Legarda;Jorge Hernández-Vara;Iria Cabo;Lydia López Manzanares;Isabel González Aramburu;Maria A Ávila Rivera;Maria J Catalán;Victor Nogueira;Victor Puente;Julio Dotor;Carmen Borrué;Berta Solano;Maria Álvarez Sauco;Lydia Vela;Sonia Escalante;Esther Cubo;Francisco Carrillo;Juan C Martínez Castrillo;Pilar Sánchez Alonso;Gemma Alonso;Nuria López Ariztegui;Itziar Gastón;Jaime Kulisevsky;Marta Blázquez;Manuel Seijo;Javier Rúiz Martínez;Caridad Valero;Monica Kurtis;Oriol de Fábregues;Jessica Ardura;Ruben Alonso;Carlos Ordás;Luis M López Díaz;Darrian McAfee;Pablo Martinez-Martin;Pablo Mir; Coppadis Study Group - Journal of personalized medicine (2021)
  10. Probing the Pre-diagnostic Phase of Parkinson's Disease in Population-Based Studies. - Lisanne J Dommershuijsen;Agnita J W Boon;M Kamran Ikram - Frontiers in neurology (2021)

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