Tolnay Markus, Probst Alphonse
Institute of Pathology, Division of Neuropathology, Basel University, Basel, Switzerland.
IUBMB Life. 2003 Jun;55(6):299-305. doi: 10.1080/1521654032000114348.
Abundant neurofibrillary lesions made of abnormal and hyperphosphorylated microtubule-associated protein tau constitute one of the defining neuropathological features of Alzheimer's disease. However, tau containing filamentous deposits in neurons and/or glial cells also define a heterogeneous group of neurodegenerative disorders clinically characterized by dementia and/or motor syndromes. Thus, all these disorders are collectively grouped under the generic term of tauopathies. In the present review we outline the morphological and biochemical characteristics of some major tauopathies, including Alzheimer's disease, Pick's disease, progressive supranuclear palsy, corticobasal degeneration and argyrophilic grain disease. The second part will deal with the recent discovery of tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 which demonstrates that tau dysfunction can lead to neurodegeneration. Finally, we will discuss the very recent finding of 'tau-deficient' tauopathy in a subset of frontotemporal dementia cases.
由异常且过度磷酸化的微管相关蛋白tau构成的大量神经原纤维病变是阿尔茨海默病的标志性神经病理学特征之一。然而，在神经元和/或胶质细胞中含有丝状沉积物的tau也定义了一组异质性神经退行性疾病，其临床特征为痴呆和/或运动综合征。因此，所有这些疾病统称为tau蛋白病。在本综述中，我们概述了一些主要tau蛋白病的形态学和生化特征，包括阿尔茨海默病、皮克病、进行性核上性麻痹、皮质基底节变性和嗜银颗粒病。第二部分将讨论最近在与17号染色体相关的额颞叶痴呆和帕金森综合征中发现的tau基因突变，这表明tau功能障碍可导致神经退行性变。最后，我们将讨论在一部分额颞叶痴呆病例中最近发现的“tau蛋白缺乏型”tau蛋白病。
