Department of Molecular Neuroscience Queen Square Brain Bank and UCL Institute of Neurology, London, UK.
Neuropathol Appl Neurobiol. 2012 Oct;38(6):520-34. doi: 10.1111/j.1365-2990.2012.01298.x.
Neuropathology has been the key to understanding the aetiology of many neurological disorders such as Alzheimer's disease, Parkinson's disease, frontotemporal degeneration and cerebellar ataxias. Dystonia shares many clinical features with these conditions but research in general, has been unrewarding in providing information on disease processes. Neuropathological studies are few in number and only limited morphological abnormalities have been described. In the genetic literature, dystonia loci are represented as DYT and are assigned ascending numerals chronologically as they are identified. This review will concentrate on the neuropathology of primary pure dystonia, focusing on DYT1 and DYT6 and the correlation between clinical and genetic findings. Research in this area is incomplete and confounded by the rarity of post mortem brain tissue. However, recent findings, indicating a direct interaction between the torsinA (TOR1A) gene responsible for DYT1 and the thanatos-associated domain-containing apoptosis-associated protein 1 (THAP1) gene responsible for DYT6, have important implications in understanding these two entities and also for other members of this group of disorders.
神经病理学一直是理解许多神经退行性疾病病因的关键，如阿尔茨海默病、帕金森病、额颞叶变性和小脑共济失调。肌张力障碍与这些疾病具有许多共同的临床特征，但总体研究在提供疾病过程信息方面并没有取得什么成果。神经病理学研究的数量很少，仅描述了有限的形态学异常。在遗传文献中，肌张力障碍的基因座被表示为 DYT，并按发现的时间顺序用升序数字进行分配。这篇综述将集中讨论原发性单纯性肌张力障碍的神经病理学，重点关注 DYT1 和 DYT6 以及临床和遗传发现之间的相关性。该领域的研究尚不完善，并且由于死后脑组织罕见而受到混淆。然而，最近的发现表明，负责 DYT1 的 torsinA（TOR1A）基因与负责 DYT6 的与死亡相关的结构域包含凋亡相关蛋白 1（THAP1）基因之间存在直接相互作用，这对理解这两种疾病以及该疾病组的其他成员具有重要意义。
