巴金森氏症診斷之挑戰

Diagnostic Challenges of Parkinson’s Disease

巴金森氏症（Parkinson’s disease，簡稱PD）是第二常見的神經退化性疾病，病理上可見a-突觸蛋白（alpha-synuclein）眾集累積，導致生理上神經傳導物質多巴胺減少，產生動作與非動作方面的臨床症狀。為了在疾病前期或早期時，即與其他疾病鑑別診斷，基因、環境暴露、體液和影像生物指標的開發與探索方興未艾，本文將介紹巴金森氏症的病生理機制、基因與環境危險因子、包含次發性和非典型巴金森症候群（secondary and atypical parkinsonism）在內之鑑別診斷、磁振造影和核子醫學影像特徵，及a-突觸蛋白體檢測技術，並闡述各個面向所遭遇之未來挑戰。

Parkinson’s disease is the second most common neurodegenerative disease. Pathological alpha-synuclein aggregation and physiological dopamine deficiency induce motor and non-motor symptoms in clinical manifestations. Numerous genetic factors, environmental exposures, fluid and neuroimaging biomarkers are under development in order to early and accurately diagnose prodromal or early-stage Parkinson’s disease. This review article will introduce the current knowledge and upcoming challenges in various aspects of Parkinson’s disease, including pathophysiological mechanisms, genetic and environmental risk factors, differential diagnoses including secondary and atypical parkinsonism, magnetic resonance and nuclear medicine imaging, and alpha-synuclein detection techniques.