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Parkinson's disease.

机译:帕金森氏病。

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摘要

Parkinson's disease is a common progressive bradykinetic disorder that can be accurately diagnosed. It is characterised by the presence of severe pars-compacta nigral-cell loss, and accumulation of aggregated alpha-synuclein in specific brain stem, spinal cord, and cortical regions. The main known risk factor is age. Susceptibility genes including alpha-synuclein, leucine rich repeat kinase 2 (LRRK-2), and glucocerebrosidase (GBA) have shown that genetic predisposition is another important causal factor. Dopamine replacement therapy considerably reduces motor handicap, and effective treatment of associated depression, pain, constipation, and nocturnal difficulties can improve quality of life. Embryonic stem cells and gene therapy are promising research therapeutic approaches.
机译:帕金森氏病是一种常见的进行性运动迟缓性疾病,可以准确诊断。它的特征是严重的pars-compacta黑色细胞丢失,并且在特定的脑干,脊髓和皮质区域聚集了α-突触核蛋白。已知的主要危险因素是年龄。包括α-突触核蛋白,富含亮氨酸的重复激酶2(LRRK-2)和葡萄糖脑苷脂酶(GBA)在内的易感基因表明,遗传易感性是另一个重要的诱因。多巴胺替代疗法可大大减少运动障碍,而有效的治疗相关的抑郁,疼痛,便秘和夜间困难可以改善生活质量。胚胎干细胞和基因治疗是有前途的研究治疗方法。

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