Helmich Rick C, Thaler Avner, van Nuenen Bart F L, Gurevich Tanya, Mirelman Anat, Marder Karen S, Bressman Susan, Orr-Urtreger Avi, Giladi Nir, Bloem Bastiaan R, Toni Ivan
From the Centre for Cognitive Neuroimaging (R.C.H., I.T.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen; Department of Neurology (R.C.H., B.R.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Movement Disorders Unit, Department of Neurology (A.T., T.G., A.M., N.G.), and Genetic Institute (A.O.-U.), Tel Aviv Sourasky Medical Center; Sackler School of Medicine (A.T., T.G., A.O.-U., N.G.), Tel Aviv University, Israel; Department of Neurology (B.F.L.v.N.), Catharina Hospital, Eindhoven, the Netherlands; Columbia University (K.S.M.), Columbia University Medical Center, New York; and Beth Israel Medical Center (S.B.), New York, NY.
Neurology. 2015 Jan 27;84(4):399-406. doi: 10.1212/WNL.0000000000001189. Epub 2014 Dec 24.
We investigated system-level corticostriatal changes in a human model of premotor Parkinson disease (PD), i.e., healthy carriers of the G2019S LRRK2 mutation that is associated with a markedly increased, age-dependent risk of developing PD.
We compared 37 asymptomatic LRRK2 G2019S mutation carriers (age range 30-78 years) with 32 matched, asymptomatic nonmutation carriers (age range 30-74 years). Using fMRI, we tested the hypothesis that corticostriatal connectivity in premotor PD shifts from severely affected to less affected striatal subregions, as shown previously in symptomatic PD. Specifically, we predicted that in premotor PD, the shift in corticostriatal connectivity would follow the same gradient of striatal dopamine depletion known from overt PD, with the dorsoposterior putamen being more affected than the ventroanterior putamen.
The known parallel topology of corticostriatal loops was preserved in each group, but the topography of putamen connectivity shifted. In LRRK2 G2019S mutation carriers, the right inferior parietal cortex had reduced functional connectivity with the dorsoposterior putamen but increased connectivity with the ventroanterior putamen, as compared with noncarriers. This shift in functional connectivity increased with age in LRRK2 G2019S mutation carriers.
Asymptomatic LRRK2 G2019S mutation carriers show a reorganization of corticostriatal circuits that mirrors findings in idiopathic PD. These changes may reflect premotor basal ganglia dysfunction or circuit-level compensatory changes.
我们在运动前区帕金森病(PD)的人类模型中研究了系统水平的皮质纹状体变化,即G2019S LRRK2突变的健康携带者,该突变与患PD的年龄依赖性风险显著增加有关。
我们将37名无症状的LRRK2 G2019S突变携带者(年龄范围30 - 78岁)与32名匹配的无症状非突变携带者(年龄范围30 - 74岁)进行比较。使用功能磁共振成像(fMRI),我们检验了如下假设:运动前区PD中皮质纹状体连接性从严重受影响的纹状体亚区转移到受影响较小的亚区,正如先前在有症状的PD中所显示的那样。具体而言,我们预测在运动前区PD中,皮质纹状体连接性的转移将遵循与明显PD中已知的纹状体多巴胺耗竭相同的梯度,背后部壳核比腹前部壳核受影响更大。
每组中皮质纹状体环路已知的平行拓扑结构得以保留,但壳核连接性的拓扑结构发生了变化。与非携带者相比,在LRRK2 G2019S突变携带者中,右下顶叶皮质与背后部壳核的功能连接性降低,但与腹前部壳核的连接性增加。在LRRK2 G2019S突变携带者中,这种功能连接性的转移随年龄增加。
无症状的LRRK2 G2019S突变携带者表现出皮质纹状体回路的重组,这与特发性PD的研究结果相似。这些变化可能反映了运动前区基底神经节功能障碍或回路水平的代偿性变化。