当前位置：
X-MOL 学术
›
Lancet Neurol.
›
论文详情
Our official English website, www.x-mol.net, welcomes your
feedback! (Note: you will need to create a separate account there.)
Increased striatal dopamine in carriers of GBA mutations: compensation or epiphenomenon?
The Lancet Neurology ( IF 46.5 ) Pub Date : 2019-10-31 , DOI: 10.1016/s1474-4422(19)30355-2 Nicolaas I Bohnen 1 , Roger L Albin 2
The Lancet Neurology ( IF 46.5 ) Pub Date : 2019-10-31 , DOI: 10.1016/s1474-4422(19)30355-2 Nicolaas I Bohnen 1 , Roger L Albin 2
Affiliation
|
LRRK2 and GBA mutations are common causes of genetic Parkinson's disease. Studies in non-manifesting carriers of these mutations provide the opportunity to investigate prodromal changes that could be relevant for understanding the pathophysiology of Parkinson's disease. Longitudinal studies in patients with rapid eye movement (REM) sleep behaviour disorder, at high risk for Parkinson's disease and other α-synucleinopathies, reveal an evolution of prodromal manifestations similar to that predicted by pathological staging models, with inferred prodromal intervals up to 20 years. Studies of striatal dopamine transporter imaging in patients with REM sleep behaviour disorder have shown Parkinson's disease phenoconversion within 3 years in patients with severe deficits in striatal dopamine transporter binding. A previous nigrostriatal terminal multi-tracer PET imaging study showed evidence of terminal losses in some non-manifesting carriers of LRRK2 mutations. These patients might have maintained healthy motor function because of compensatory mechanisms—upregulation of dopa decarboxylase activity and downregulation of plasmalemmal dopamine transporters—maintaining normal concentrations of synaptic dopamine.
中文翻译：
GBA突变携带者中纹状体多巴胺增加：补偿还是表象现象？
LRRK2和GBA突变是遗传性帕金森氏病的常见原因。对这些突变的非表现载体的研究提供了研究前驱性改变的机会，这些改变可能与理解帕金森氏病的病理生理学有关。对患有帕金森氏病和其他α-突触核蛋白病高风险的快速眼动（REM）睡眠行为障碍患者的纵向研究显示，前驱表现的演变与病理分期模型所预测的相似，推断前驱间隔可长达20年。REM睡眠行为障碍患者纹状体多巴胺转运蛋白显像的研究表明，纹状体多巴胺转运蛋白结合严重缺陷的患者在3年内发生了帕金森氏病表型转换。LRRK2突变。这些患者可能由于补偿机制（多巴脱羧酶活性的上调和血浆多巴胺转运蛋白的下调）而保持健康的运动功能，从而维持突触多巴胺的正常浓度。
更新日期：2019-12-13
中文翻译：
GBA突变携带者中纹状体多巴胺增加：补偿还是表象现象？
LRRK2和GBA突变是遗传性帕金森氏病的常见原因。对这些突变的非表现载体的研究提供了研究前驱性改变的机会，这些改变可能与理解帕金森氏病的病理生理学有关。对患有帕金森氏病和其他α-突触核蛋白病高风险的快速眼动（REM）睡眠行为障碍患者的纵向研究显示，前驱表现的演变与病理分期模型所预测的相似，推断前驱间隔可长达20年。REM睡眠行为障碍患者纹状体多巴胺转运蛋白显像的研究表明，纹状体多巴胺转运蛋白结合严重缺陷的患者在3年内发生了帕金森氏病表型转换。LRRK2突变。这些患者可能由于补偿机制（多巴脱羧酶活性的上调和血浆多巴胺转运蛋白的下调）而保持健康的运动功能，从而维持突触多巴胺的正常浓度。
京公网安备 11010802027423号