Love S
Department of Neuropathology, Institute of Clinical Neuroscience, Frenchay Hospital, Bristol, UK.
Histopathology. 2004 Apr;44(4):309-17. doi: 10.1111/j.1365-2559.2004.01794.x.
The importance of the autopsy in neurodegenerative disease is often not appreciated. Yet clinical diagnosis of neurodegenerative disease is relatively inaccurate, many neurodegenerative diseases are inherited or are associated with specific genetic risk factors, and several non-transmissible neurodegenerative diseases may be confused clinically with prion diseases. In all these cases, the autopsy is the only practical way in which brain tissue can be obtained for diagnosis. The pathologist should ensure that consent by the next-of-kin to post mortem examination is based on clear information as to the nature, scope and limitations of the autopsy, and that any constraints on retaining brain and other tissues are documented. The autopsy should be preceded by a careful review of the clinical notes and ante mortem studies, and consideration of the possible and likely pathological processes. This may suggest the need to retain fixed or frozen samples of cerebrospinal fluid, skeletal muscle, peripheral nerve and other tissues in addition to brain and spinal cord. Ideally, the brain should be fixed intact for 2-3 weeks before it is sliced and blocks are taken. If the period of fixation is limited to a few days only, it is best to slice the brain whilst it is fresh and to allow the diagnostically relevant slices to fix flat; after about 3 days the fixed slices can be sliced further, examined macroscopically and sampled. Even if consent is limited to the retention of only a few tissue samples for histology, a reasonably confident diagnosis can still usually be made, provided that the sampling is careful and systematic. The selection of blocks or brain and spinal cord for histology should be based on internationally accepted guidelines for the pathological diagnosis of different types of neurodegenerative disease, where such guidelines are available. Illustrations are provided to indicate which regions of the brain are critical to establishing a diagnosis in the main categories of neurodegenerative disease. When difficulties arise in the pathological diagnosis of neurodegenerative disease, inadequate post mortem sampling or rapid processing of poorly fixed brain tissue is usually to blame.
尸检在神经退行性疾病中的重要性常常未得到充分认识。然而，神经退行性疾病的临床诊断相对不准确，许多神经退行性疾病是遗传性的或与特定的遗传风险因素相关，并且几种非传染性神经退行性疾病在临床上可能与朊病毒病相混淆。在所有这些情况下，尸检是获取脑组织进行诊断的唯一可行方法。病理学家应确保近亲对尸检的同意基于关于尸检的性质、范围和局限性的明确信息，并且记录对保留大脑和其他组织的任何限制。在进行尸检之前，应仔细查阅临床记录和生前研究，并考虑可能的和可能的病理过程。这可能表明除了大脑和脊髓之外，还需要保留脑脊液、骨骼肌、周围神经和其他组织的固定或冷冻样本。理想情况下，大脑应完整固定2 - 3周后再切片取材。如果固定时间仅限制在几天，最好在大脑新鲜时切片，并让具有诊断意义的切片平放固定；大约3天后，固定好的切片可以进一步切片，进行大体检查和取材。即使同意仅保留少量组织样本用于组织学检查，只要取材仔细且系统，通常仍能做出相当可靠的诊断。对于组织学检查的脑块或大脑及脊髓的选择应基于针对不同类型神经退行性疾病病理诊断的国际公认指南（如有此类指南）。文中提供了图示，以表明大脑的哪些区域对于确定主要类型神经退行性疾病的诊断至关重要。当神经退行性疾病的病理诊断出现困难时，通常归咎于尸检取材不足或对固定不佳的脑组织进行快速处理。
