Kovacs Gabor G
Institute of Neurology, Medical University of Vienna, Vienna, Austria.
Handb Clin Neurol. 2017;145:355-368. doi: 10.1016/B978-0-12-802395-2.00025-0.
Tauopathies are neurodegenerative disorders characterized by the deposition of abnormal tau protein in the brain. The spectrum of tau pathologies expands beyond the traditionally discussed disease forms like Pick disease, progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease. Emerging entities and pathologies include globular glial tauopathies, primary age-related tauopathy, which includes neurofibrillary tangle dementia, chronic traumatic encephalopathy (CTE), and aging-related tau astrogliopathy. Clinical symptoms include frontotemporal dementia, corticobasal syndrome, Richardson syndrome, parkinsonism, pure akinesia with gait freezing and, rarely, motor neuron symptoms or cerebellar ataxia. Some disorders show specific neuroimaging features, while examination of the cerebrospinal fluid awaits markers for in vivo stratification of cases. The possibility of cell-to-cell propagation is a novel aspect of the pathogenesis of tauopathies, which is partly reflected by the hierarchic involvement of anatomic regions. This concept might have relevance for the development of therapies. For cost-effective screening for tau pathologies in neuropathologic practice, examination of the hippocampus, amygdala, and basal ganglia is recommended. Uncommon morphologies or unusually extensive forms of tau pathologies should raise the suspicion of a genetic background. Ongoing multidisciplinary studies are needed to understand the whole spectrum and significance of tau pathologies.
tau蛋白病是一类神经退行性疾病，其特征是大脑中异常tau蛋白的沉积。tau蛋白病变的范围已超出了传统讨论的疾病形式，如匹克病、进行性核上性麻痹、皮质基底节变性和嗜银颗粒病。新出现的病变类型包括球状胶质tau蛋白病、原发性年龄相关性tau蛋白病，后者包括神经原纤维缠结性痴呆、慢性创伤性脑病（CTE）和衰老相关性tau蛋白星形胶质细胞病。临床症状包括额颞叶痴呆、皮质基底节综合征、理查森综合征、帕金森症、伴有步态冻结的单纯运动不能，以及罕见的运动神经元症状或小脑共济失调。一些疾病表现出特定的神经影像学特征，而脑脊液检查有待寻找用于病例体内分层的标志物。细胞间传播的可能性是tau蛋白病发病机制的一个新方面，这在一定程度上反映在解剖区域的分层受累上。这一概念可能与治疗方法的开发有关。为了在神经病理学实践中对tau蛋白病变进行经济有效的筛查，建议检查海马体、杏仁核和基底神经节。不常见的形态或异常广泛的tau蛋白病变形式应引起对遗传背景的怀疑。需要进行持续的多学科研究，以了解tau蛋白病变的全貌和意义。
