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文献库 > 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
关键词帕金森病, 神经退行性疾病, 个性化管理, 遗传风险, 运动症状
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 ​

帕金森病是一种日益普遍的神经退行性疾病，其风险与遗传因素、家族史和生活方式等多重因素相关。研究强调个性化管理的重要性，并指出尽管目前无治疗可减缓病程，但对遗传机制的深入了解为未来的治疗策略提供了新的可能性。

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帕金森病 · 神经退行性疾病 · 个性化管理 · 遗传风险 · 运动症状

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。帕金森病代表了一种快速增长的神经退行性疾病；其在全球的日益普遍性类似于在大流行期间通常观察到的许多特征，唯一不同的是没有传染性原因。在大多数人群中，3-5%的帕金森病可以归因于与已知帕金森病基因相关的遗传原因，这被称为单基因性帕金森病，而90个遗传风险变异共同解释了非单基因性帕金森病16-36%的可遗传风险。其他致病关联因素包括有直系亲属患有帕金森病或震颤、便秘以及不吸烟，每一种因素至少都能使帕金森病的风险翻倍。诊断主要依赖临床表现；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，还包括许多非运动症状。预后咨询应根据对疾病亚型的认识进行指导。临床显现的帕金森病通常在一个潜在的较长的前驱期之后出现。目前，对于前驱症状的确立除了有助于缓解症状外，并没有临床意义，尽管对前驱性帕金森症的认识在未来当疾病修饰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。对于因帕金森病而逐渐失能的人们，没有理由推迟对症治疗。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，并需要一个多学科团队的协作，包括越来越多的非药物干预措施。目前，没有任何治疗可以减缓或阻止帕金森病的进展，但借助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修饰潜力。在本次研讨会中，我们将以帕金森病患者的视角为主线，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. 帕金森病的非运动症状具体包括哪些方面，它们如何影响患者的生活质量？
  2. 在帕金森病的发病机制中，遗传因素和环境因素各自扮演了怎样的角色？
  3. 当前针对帕金森病的研究中，有哪些新兴的治疗方法或干预措施在开发中？
  4. 帕金森病患者在早期阶段的诊断挑战主要表现在哪些方面，有哪些改进的可能性？
  5. 除了多巴胺神经元的损失，帕金森病的病理变化还涉及哪些其他神经递质或蛋白质聚集体？

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，其成因和临床表现多样化。近年来，帕金森病的发病率快速上升，呈现出类似于疫情的特征，尽管其并非由感染引起。该研究旨在全面了解帕金森病的遗传背景、临床表现、诊断标准及治疗策略，尤其是如何通过个性化管理来优化患者的治疗效果。

2. 主要方法和发现 ​

研究表明，在大多数人群中，帕金森病的3-5%是由已知的遗传基因引起的单基因型帕金森病，而90个遗传风险变异共同解释了非单基因型帕金森病16-36%的遗传风险。此外，家族史、便秘、以及不吸烟等因素均可将帕金森病的风险提高一倍以上。诊断通常基于临床表现，辅助检查主要用于表现异常的病例。当前的诊断标准要求患者具备运动迟缓，同时伴有静息性震颤、肌肉僵直或两者兼有。研究还发现，帕金森病的临床表现多样，除了运动症状外，许多非运动症状也需被重视。

3. 核心结论 ​

临床显现的帕金森病通常伴随较长的前驱期，目前对前驱症状的识别尚无临床应用，但未来可能对疾病修饰治疗产生影响。个体化管理是治疗的关键，尤其是在不同患者的治疗目标各异的情况下。尽管目前没有治疗能够减缓或阻止帕金森病的进展，新的遗传学发现和神经死亡机制研究为开发潜在的疾病修饰策略提供了可能的方向。首选的治疗药物是左旋多巴，最佳管理应在诊断时开始，并需要跨学科团队的合作，包括日益丰富的非药物干预措施。

4. 研究意义和影响 ​

该研究强调了帕金森病的复杂性及其个体化管理的重要性。通过深入理解遗传因素、临床表现和治疗策略，研究为未来帕金森病的早期诊断及个性化治疗奠定了基础。随着对前驱症状的认识和潜在疾病修饰疗法的开发，帕金森病患者的生活质量有望得到显著改善。此外，该研究为临床医生提供了有价值的指导，帮助他们制定更有效的治疗方案，增强患者的治疗体验。

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  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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