Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4.
MAPT has been repeatedly linked with Parkinson's disease (PD) in association studies. Although tau deposition may be seen in PD, its relevance to the pathogenesis of the condition remains unclear. The presence of tau-positive inclusions is, however, the defining feature of progressive supranuclear palsy (PSP), which may often be clinically misdiagnosed as idiopathic PD. On a genetic level, variants in MAPT are the strongest risk factor for PSP. These facts raise the question whether the MAPT association in PD results from contamination with unrecognized cases of PSP. Using only neuropathologically proven PD, we show that the MAPT association remains and is independent of the PSP Association.
MAPT 已在多项关联研究中与帕金森病（PD）反复相关联。虽然在 PD 中可能会看到 tau 沉积，但 tau 沉积与该疾病发病机制的相关性仍不清楚。然而，tau 阳性包涵体的存在是进行性核上性麻痹（PSP）的明确特征，PSP 常可能被临床误诊为特发性 PD。在遗传水平上，MAPT 中的变体是 PSP 的最强危险因素。这些事实提出了一个问题，即 PD 中的 MAPT 关联是否是由于与未被识别的 PSP 病例相混杂所致。我们仅使用神经病理学证实的 PD 进行研究，结果表明 MAPT 关联仍然存在，且与 PSP 关联无关。
