Parkinson's disease
Parkinson's disease
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DOI：
10.1201/b12952-20
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发表时间：
2021-04
期刊：
影响因子：
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通讯作者：
B. Bloem;M. Okun;C. Klein
中科院分区：
文献类型：
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作者：
B. Bloem;M. Okun;C. Klein
帕金森病是一种可识别的临床综合征，具有一系列病因和临床表现。帕金森氏病是一种快速发展的神经退行性疾病;全球范围内患病率的上升与大流行期间通常观察到的许多特征相似，但感染性原因除外。在大多数人群中，3-5%的帕金森病是由与已知帕金森病基因相关的遗传原因解释的，因此代表单基因帕金森病，而90种遗传风险变异共同解释了16-36%的非单基因帕金森病的遗传风险。其他的因果关系包括有帕金森病或震颤的亲属，便秘，以及不吸烟者，每一个都至少增加一倍帕金森病的风险。诊断以临床为基础;辅助检查是为非典型表现的人保留的。目前的标准将帕金森病定义为运动迟缓伴静止性震颤、强直或两者兼而有之。然而，临床表现是多方面的，包括许多非运动症状。预后咨询以疾病亚型的认识为指导。临床表现的帕金森病之前有一个潜在的长前驱期。目前，前驱症状的建立除了抑制症状外没有其他临床意义，尽管当疾病改善治疗可用时，前驱帕金森综合征的识别可能会产生后果。治疗目标因人而异，强调需要个性化管理。没有理由推迟因帕金森病而残疾的人的对症治疗。左旋多巴是最常用的一线治疗药物。最佳的管理应该从诊断开始，需要多学科团队的方法，包括不断增加的非药物干预手段。目前，没有任何治疗方法可以减缓或阻止帕金森病的进展，但通过对神经元死亡的遗传原因和机制的新见解，正在测试几种有希望的策略来改善疾病的潜力。从帕金森病患者的角度来看，在整个研讨会中，我们将展示如何优化帕金森病的个性化管理。
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.