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Abstract：
BACKGROUND: Neurologists refer to numerous \"syndromes,‿ consisting of specific combinations of clinical manifestations, following a specific progression pattern, and with the support of blood analysis (without genomic-proteomic parameters) and neuroimaging findings (MRI, CT, perfusion SPECT, or 18F-FDG-PET scans). Neurodegenerative \"diseases,‿ on the other hand, are defined by specific combinations of clinical signs and histopathological findings; these must be confirmed by a clinical examination and a histology study or evidence of markers of a specific disorder for the diagnosis to be made. However, we currently know that most genetic and histopathological alterations can result in diverse syndromes. The genetic or histopathological aetiology of each syndrome is also heterogeneous, and we may encounter situations with pathophysiological alterations characterising more than one neurodegenerative disease. Sometimes, specific biomarkers are detected in the preclinical stage.
METHODS: We performed a literature review to identify patients whose histopathological or genetic disorder was discordant with that expected for the clinical syndrome observed, as well as patients presenting multiple neurodegenerative diseases, confirming the heterogeneity and overlap between syndromes and diseases. We also observed that the treatments currently prescribed to patients with neurodegenerative diseases are symptomatic.
CONCLUSIONS: Our findings show that the search for disease biomarkers should be restricted to research centres, given the lack of disease-modifying drugs or treatments improving survival. Moreover, syndromes and specific molecular or histopathological alterations should be managed independently of one another, and new \"diseases‿ should be defined and adapted to current knowledge and practice.
METHODS: We performed a literature review to identify patients whose histopathological or genetic disorder was discordant with that expected for the clinical syndrome observed, as well as patients presenting multiple neurodegenerative diseases, confirming the heterogeneity and overlap between syndromes and diseases. We also observed that the treatments currently prescribed to patients with neurodegenerative diseases are symptomatic.
CONCLUSIONS: Our findings show that the search for disease biomarkers should be restricted to research centres, given the lack of disease-modifying drugs or treatments improving survival. Moreover, syndromes and specific molecular or histopathological alterations should be managed independently of one another, and new \"diseases‿ should be defined and adapted to current knowledge and practice.
摘要：
背景：神经学家提到了许多“综合征”，由临床表现的特定组合组成，遵循特定的进展模式，并且在血液分析（没有基因组-蛋白质组参数）和神经影像学发现（MRI，CT,灌注SPECT,或18F-FDG-PET扫描)。神经退行性疾病，而另一方面,由临床体征和组织病理学发现的特定组合定义;这些必须通过临床检查和组织学研究或特定疾病标志物的证据来确认，以便进行诊断。然而,我们目前知道，大多数遗传和组织病理学改变可以导致不同的综合征。每个综合征的遗传或组织病理学病因也是异质的，我们可能会遇到病理生理改变的情况，这些改变表征了一种以上的神经退行性疾病。有时候,在临床前阶段检测到特异性生物标志物.
方法：我们进行了文献综述，以确定其组织病理学或遗传性疾病与观察到的临床综合征预期不一致的患者，以及出现多种神经退行性疾病的患者，确认综合症和疾病之间的异质性和重叠。我们还观察到，目前对神经退行性疾病患者的治疗是有症状的。
结论：我们的研究结果表明，寻找疾病生物标志物应仅限于研究中心，鉴于缺乏改善疾病的药物或改善生存率的治疗方法。此外，综合征和特定的分子或组织病理学改变应彼此独立管理，和新的“疾病”应定义并适应当前的知识和实践。
方法：我们进行了文献综述，以确定其组织病理学或遗传性疾病与观察到的临床综合征预期不一致的患者，以及出现多种神经退行性疾病的患者，确认综合症和疾病之间的异质性和重叠。我们还观察到，目前对神经退行性疾病患者的治疗是有症状的。
结论：我们的研究结果表明，寻找疾病生物标志物应仅限于研究中心，鉴于缺乏改善疾病的药物或改善生存率的治疗方法。此外，综合征和特定的分子或组织病理学改变应彼此独立管理，和新的“疾病”应定义并适应当前的知识和实践。
