Neuroscience Research Australia, Sydney, Australia.
Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S62-7. doi: 10.1016/S1353-8020(13)70017-8.
α-Synucleinopathies are neurodegenerative diseases characterised by the abnormal accumulation of α-synuclein aggregates in neurons, nerve fibres or glial cells. While small amounts of these α-synuclein pathologies can occur in some neurologically normal individuals who do not have associated neurodegeneration, the absence of neurodegeneration in such individuals precludes them from having a degenerative α-synucleinopathy, and it has yet to be established whether such individuals have a form of preclinical disease. There are three main types of α-synucleinopathy, Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), with other rare disorders also having α-synuclein pathologies, such as various neuroaxonal dystrophies. Multiple clinical phenotypes exist for each of the three main α-synucleinopathies, with these phenotypes differing in the dynamic distribution of their underlying neuropathologies. Identifying the factors involved in causing different α-synuclein phenotypes may ultimately lead to more targeted therapeutics as well as more accurate clinical prognosis.
α-突触核蛋白病是一种神经退行性疾病,其特征是神经元、神经纤维或神经胶质细胞中α-突触核蛋白聚集物的异常积累。虽然在一些没有相关神经退行性变的神经正常个体中,会出现少量这些α-突触核蛋白病变,但在这些个体中没有神经退行性变,排除了他们患有退行性α-突触核蛋白病的可能性,而且尚未确定这些个体是否存在临床前疾病的形式。有三种主要类型的α-突触核蛋白病,帕金森病(PD)、路易体痴呆(DLB)和多系统萎缩(MSA),其他罕见疾病也有α-突触核蛋白病变,如各种神经轴突营养不良。三种主要的α-突触核蛋白病中的每一种都存在多种临床表型,这些表型在其潜在神经病理学的动态分布上有所不同。确定导致不同α-突触核蛋白表型的因素最终可能导致更有针对性的治疗方法,以及更准确的临床预后。