Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK
Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.
Pract Neurol. 2024 May 29;24(3):188-199. doi: 10.1136/pn-2023-003988.
Neurodegeneration refers to progressive dysfunction or loss of selectively vulnerable neurones from brain and spinal cord regions. Despite important advances in fluid and imaging biomarkers, the definitive diagnosis of most neurodegenerative diseases still relies on neuropathological examination. Not only has careful clinicopathological correlation shaped current clinical diagnostic criteria and informed our understanding of the natural history of neurodegenerative diseases, but it has also identified conditions with important public health implications, including variant Creutzfeldt-Jakob disease, iatrogenic amyloid-β and chronic traumatic encephalopathy. Neuropathological examination may also point to previously unsuspected genetic diagnoses with potential implications for living relatives. Moreover, detailed neuropathological assessment is crucial for research studies that rely on curated postmortem tissue to investigate the molecular mechanisms responsible for neurodegeneration and for biomarker discovery and validation. This review aims to elucidate the hallmark pathological features of neurodegenerative diseases commonly seen in general neurology clinics, such as Alzheimer's disease and Parkinson's disease; rare but well-known diseases, including progressive supranuclear palsy, corticobasal degeneration and multiple system atrophy and more recently described entities such as chronic traumatic encephalopathy and age-related tau astrogliopathy.
神经退行性变是指大脑和脊髓区域中选择性易损神经元的进行性功能障碍或丧失。尽管在体液和影像学生物标志物方面取得了重要进展，但大多数神经退行性疾病的明确诊断仍依赖于神经病理学检查。临床病理相关性不仅塑造了当前的临床诊断标准，也加深了我们对神经退行性疾病自然史的理解，还确定了一些具有重要公共卫生意义的疾病，包括变异型克雅氏病、医源性淀粉样蛋白-β 和慢性创伤性脑病。神经病理学检查还可能指向以前未被怀疑的遗传诊断，这些诊断可能对有血缘关系的亲属有潜在影响。此外，详细的神经病理学评估对于依赖精心保存的死后组织进行研究的研究至关重要，这些研究旨在调查导致神经退行性变的分子机制，并发现和验证生物标志物。这篇综述旨在阐明常见于普通神经病学诊所的神经退行性疾病的标志性病理特征，如阿尔茨海默病和帕金森病；罕见但众所周知的疾病，包括进行性核上性麻痹、皮质基底节变性和多系统萎缩，以及最近描述的实体，如慢性创伤性脑病和与年龄相关的 tau 星形胶质病。
