Palushaj Bianca, Lewis Simon J G, Abdelnour Carla
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, USA.
Macquarie University, Sydney, NSW, Australia.
J Neurol. 2024 Dec 12;272(1):43. doi: 10.1007/s00415-024-12734-1.
Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia after Alzheimer's disease (AD), yet it remains under-recognized and frequently misdiagnosed due to heterogenous clinical presentations, the presence of co-pathology, and the lack of specific diagnostic tools. Pathologically, DLB is characterized by the accumulation of misfolded alpha-synuclein (aSyn) aggregates, known as Lewy bodies. Recent advancements have improved in vivo detection of aSyn pathology through techniques such as seed amplification assays, monoclonal antibodies, and positron emission tomography using novel small-molecule ligands. The ability to detect aSyn in vivo has sparked dialogue about using biomarkers to identify individuals with aSyn, similar to the approach influencing the field of AD. Proponents argue that biological staging could facilitate the detection of preclinical disease stages, allowing for earlier intervention and targets for disease modification, and could improve diagnostic sensitivity and accuracy in selecting patients for clinical trials. However, critics caution that this method may oversimplify the complexity of DLB and overlook its clinical heterogeneity, also highlighting practical challenges related to implementation, cost, and global access to advanced diagnostic technologies. Importantly, although significant progress has been made in detecting aSyn for diagnostic purposes, disease-modifying therapies targeting aSyn have yet to demonstrate clear efficacy in slowing disease progression. Elucidating the physiological and pathophysiological roles of aSyn remains an urgent priority in neurodegenerative research. Other experimental research priorities for DLB include developing improved cellular and animal models that reflect epigenetic and environmental factors, mapping post-translational modifications, and systematically characterizing neurons that are vulnerable and resistant to lewy pathology using a multi-omic approach. Clinically, there is an urgent need for international, prospective, longitudinal studies and for validated, disease-specific outcome measures. Addressing these priorities is essential for advancing our understanding of DLB and developing effective therapies.
路易体痴呆(DLB)是仅次于阿尔茨海默病(AD)的第二常见神经退行性痴呆,但由于临床表现异质性、合并病理学情况以及缺乏特异性诊断工具,它仍然未得到充分认识且经常被误诊。病理上,DLB的特征是错误折叠的α-突触核蛋白(aSyn)聚集体的积累,即路易体。最近的进展通过种子扩增分析、单克隆抗体以及使用新型小分子配体的正电子发射断层扫描等技术,改进了体内aSyn病理学的检测。在体内检测aSyn的能力引发了关于使用生物标志物来识别aSyn个体的讨论,类似于影响AD领域的方法。支持者认为,生物学分期有助于检测临床前疾病阶段,实现更早的干预和疾病修饰靶点,并可提高在选择临床试验患者时的诊断敏感性和准确性。然而,批评者警告说,这种方法可能会过度简化DLB的复杂性并忽视其临床异质性,还强调了与实施、成本以及全球获得先进诊断技术相关的实际挑战。重要的是,尽管在检测用于诊断目的的aSyn方面取得了重大进展,但针对aSyn的疾病修饰疗法尚未在减缓疾病进展方面显示出明确疗效。阐明aSyn的生理和病理生理作用仍然是神经退行性研究中的当务之急。DLB的其他实验研究重点包括开发反映表观遗传和环境因素的改进细胞和动物模型、绘制翻译后修饰图谱以及使用多组学方法系统地表征易受路易体病理影响和具有抗性的神经元。临床上,迫切需要开展国际前瞻性纵向研究以及经过验证的、针对特定疾病的结局指标。解决这些重点问题对于增进我们对DLB的理解和开发有效疗法至关重要。