Nass R D, Meister I G, Haupt W F, Fink G R
Klinik für Epileptologie, Universitätsklinik Bonn.
Fortschr Neurol Psychiatr. 2012 Dec;80(12):711-9. doi: 10.1055/s-0032-1325604. Epub 2012 Dec 10.
The occurrence of cognitive decline in amyotrophic lateral sclerosis (ALS), especially in the form of frontotemporal dementia (FTD), has been described previously. Recent molecular biology and histopathology data suggest that both ALS and FTD may share common pathological pathways and may present two phenotypes of the same proteinopathy. The underlying pathophysiological mechanism may be defective RNA- and DNA-modulation, mediated by the proteins TDP43 and FUS. These findings are suggestive of a new disease category of TDP43-proteinopathies, which include ALS, FTD and overlap syndromes. While about half of the FTD cases are associated with TDP43-deposits, tau is found in the other half. A significant clinical overlap to other tauopathies exists here as well, for instance with corticobasal degeneration. In this paper, we present a case report and review the clinical spectrum and current pathogenetic concepts of FTD.
肌萎缩侧索硬化症（ALS）中认知功能下降的发生情况，尤其是额颞叶痴呆（FTD）形式的认知功能下降，此前已有描述。最近的分子生物学和组织病理学数据表明，ALS和FTD可能共享共同的病理途径，并且可能呈现同一蛋白病的两种表型。潜在的病理生理机制可能是由蛋白质TDP43和FUS介导的RNA和DNA调节缺陷。这些发现提示了一种新的疾病类别，即TDP43蛋白病，其中包括ALS、FTD和重叠综合征。虽然约一半的FTD病例与TDP43沉积有关，但另一半病例中发现有tau蛋白。这里也存在与其他tau蛋白病的显著临床重叠，例如与皮质基底节变性。在本文中，我们报告一例病例，并综述FTD的临床谱和当前的发病机制概念。
