Höglinger Günter U, Lang Anthony E
Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
J Parkinsons Dis. 2024 Dec 8:1877718X241298194. doi: 10.1177/1877718X241298194.
While significant progress has been made in treating Parkinson's disease (PD) symptoms, disease-modifying therapies (DMTs) have consistently failed. To address the underlying molecular mechanisms of PD, two biology-based criteria have been proposed: the "Synucleinopathy-Neurodegeneration-Genetics" (SynNeurGe) and "neuronal α-synuclein disease" (NSD) frameworks. Both frameworks emphasize the importance of biological markers over clinical symptoms. They recognize α-synuclein aggregation and genetic mutations (such as SNCA) as key diagnostic elements, with α-synuclein seed amplification assays (SAA) in cerebrospinal fluid (CSF) used to detect early disease stages. Dopaminergic neurodegeneration, measured by DAT imaging, is also central to both frameworks. These shared features aim to improve early diagnosis and precision medicine for PD. However, SynNeurGe provides a broader, more flexible framework that integrates α-synuclein pathology (S), neurodegeneration (N), and genetics (G), linked to clinical features (C). It aims to accommodate the complexity of PD and related Lewy body diseases, facilitating research on targeted DMTs. In contrast, NSD focuses specifically on PD and Lewy body dementia, introducing a staging system (NSD-ISS) based on biological markers and clinical impairment, helping track disease progression from preclinical to symptomatic stages. Despite their differences, both approaches highlight the need for more specific biomarkers and prospective studies to improve early intervention and personalized treatment. Harmonizing SynNeurGe and NSD concepts will be key in creating a universally accepted framework for precise PD diagnosis and therapy development.
虽然在治疗帕金森病(PD)症状方面已取得显著进展,但疾病修饰疗法(DMTs)一直未能成功。为了解决PD的潜在分子机制,人们提出了两个基于生物学的标准:“突触核蛋白病 - 神经退行性变 - 遗传学”(SynNeurGe)和“神经元α - 突触核蛋白病”(NSD)框架。这两个框架都强调生物标志物比临床症状更重要。它们将α - 突触核蛋白聚集和基因突变(如SNCA)视为关键诊断要素,脑脊液(CSF)中的α - 突触核蛋白种子扩增测定(SAA)用于检测疾病早期阶段。通过多巴胺转运体(DAT)成像测量的多巴胺能神经退行性变在这两个框架中也很关键。这些共同特征旨在改善PD的早期诊断和精准医学。然而,SynNeurGe提供了一个更广泛、更灵活的框架,它整合了α - 突触核蛋白病理学(S)、神经退行性变(N)和遗传学(G),并与临床特征(C)相关联。其目的是适应PD和相关路易体疾病的复杂性,促进针对性DMTs的研究。相比之下,NSD专门关注PD和路易体痴呆,引入了一个基于生物标志物和临床损害的分期系统(NSD - ISS),有助于跟踪疾病从临床前期到症状期的进展。尽管它们存在差异,但两种方法都强调需要更特异的生物标志物和前瞻性研究来改善早期干预和个性化治疗。协调SynNeurGe和NSD的概念将是创建一个被普遍接受的精确PD诊断和治疗开发框架的关键。