PDF(Pubmed)
Abstract：
Asymptomatic Leucine-Rich Repeat Kinase 2 Gene (LRRK2) carriers are at risk for developing Parkinson\'s disease (PD). We studied presymptomatic substantia nigra pars compacta (SNc) regional neurodegeneration in asymptomatic LRRK2 carriers compared to idiopathic PD patients using neuromelanin-sensitive MRI technique (NM-MRI). Fifteen asymptomatic LRRK2 carriers, 22 idiopathic PD patients, and 30 healthy controls (HCs) were scanned using NM-MRI. We computed volume and contrast-to-noise ratio (CNR) derived from the whole SNc and the sensorimotor, associative, and limbic SNc regions. An analysis of covariance was performed to explore the differences of whole and regional NM-MRI values among the groups while controlling the effect of age and sex. In whole SNc, LRRK2 had significantly lower CNR than HCs but non-significantly higher volume and CNR than PD patients, and PD patients significantly lower volume and CNR compared to HCs. Inside SNc regions, there were significant group effects for CNR in all regions and for volumes in the associative region, with a trend in the sensorimotor region but no significant changes in the limbic region. PD had reduced volume and CNR in all regions compared to HCs. Asymptomatic LRRK2 carriers showed globally decreased SNc volume and CNR suggesting early nigral neurodegeneration in these subjects at risk of developing PD.
摘要：
无症状的富含亮氨酸重复激酶2基因(LRRK2)携带者有患帕金森病(PD)的风险。我们使用神经黑色素敏感的MRI技术（NM-MRI）研究了无症状的LRRK2携带者与特发性PD患者相比的症状前黑质致密部（SNc）区域神经变性。15名无症状LRRK2携带者，22例特发性PD患者，使用NM-MRI扫描30名健康对照（HC）。我们计算了来自整个SNc和感觉运动的体积和对比噪声比（CNR），联想,和边缘SNc区域。在控制年龄和性别影响的同时，进行了协方差分析，以探讨各组之间整体和区域NM-MRI值的差异。在整个SNc中，LRRK2的CNR明显低于HC，但体积和CNR明显高于PD患者，与HC相比，PD患者的体积和CNR显着降低。在SNc区域内，所有区域的CNR和关联区域的卷都有显著的群体效应，感觉运动区域有趋势，但边缘区域没有明显变化。与HC相比，PD在所有地区的体积和CNR都降低了。无症状的LRRK2携带者显示出整体SNc体积和CNR减少，提示这些受试者有发生PD的风险。
