Department of Human Anatomy and Cell Science, Max Rady College of Medicine, Rady Faculty of Health science, University of Manitoba, Winnipeg, MB, Canada.
The Children's Hospital Research Institute of Manitoba (CHRIM), Rady Faculty of Health science, University of Manitoba, Winnipeg, MB, Canada.
Cerebellum. 2024 Aug;23(4):1313-1320. doi: 10.1007/s12311-023-01575-9. Epub 2023 Jun 8.
Cerebellar nuclei (CN) constitute the sole cerebellar output to the rest of the central nervous system and play a central role in cerebellar circuits. Accumulating evidence from both human genetics and animal studies point to a crucial role for CN connectivity in neurological diseases, including several types of ataxia. However, because of the compact and restricted topography and close functional connection between the CN and the cerebellar cortex, identifying cerebellar deficits exclusively linked to CN is challenging. In this study, we have experimentally ablated large projection glutamatergic neurons of the lateral CN and evaluated the impact of this selective manipulation on motor coordination in mice. To this end, through stereotaxic surgery, we injected the lateral CN of Vglut2-Cre+ mice with an adeno-associated virus (AAV) encoding a Cre-dependent diphtheria toxin receptor (DTR), followed by an intraperitoneal injection of diphtheria toxin (DT) to ablate the glutamatergic neurons of the lateral nucleus. Double immunostaining of cerebellar sections with anti-SMI32 and -GFP antibodies revealed GFP expression and provided evidence of SMI32+ neuron degeneration at the site of AAV injection in the lateral nucleus of Vglut2-Cre+ mice. No changes were observed in Vglut2-Cre negative mice. Analysis of motor coordination by rotarod test indicated that the latency to fall was significantly different before and after AAV/DT injection in the Vglut2-Cre+ group. Elapsed time and number of steps in the beam walking test were significantly higher in AAV/DT injected Vglut2-Cre+ AAV/DT mice compared to controls. We demonstrate for the first time that partial degeneration of glutamatergic neurons in the lateral CN is sufficient to induce an ataxic phenotype.
小脑核(CN)构成小脑向中枢神经系统其余部分的唯一输出,在小脑回路中发挥核心作用。来自人类遗传学和动物研究的越来越多的证据表明,CN 连接在神经疾病中起着至关重要的作用,包括几种类型的共济失调。然而,由于 CN 与小脑皮层之间的紧凑和受限的拓扑结构以及紧密的功能连接,仅识别与 CN 相关的小脑缺陷具有挑战性。在这项研究中,我们通过实验消融了外侧 CN 的大投射谷氨酸能神经元,并评估了这种选择性操作对小鼠运动协调的影响。为此,我们通过立体定向手术将编码 Cre 依赖性白喉毒素受体(DTR)的腺相关病毒(AAV)注入 Vglut2-Cre+ 小鼠的外侧 CN,然后腹腔内注射白喉毒素(DT)以消融外侧核的谷氨酸能神经元。用抗 SMI32 和 -GFP 抗体对小脑切片进行双重免疫染色显示 GFP 表达,并提供了在 Vglut2-Cre+ 小鼠外侧核 AAV 注射部位 SMI32+神经元退化的证据。在 Vglut2-Cre 阴性小鼠中未观察到变化。通过转棒试验分析运动协调能力表明,Vglut2-Cre+ 组在 AAV/DT 注射前后的跌落潜伏期有显著差异。与对照组相比,在 AAV/DT 注射的 Vglut2-Cre+ AAV/DT 小鼠中,在光束行走试验中经过的时间和步骤数明显更高。我们首次证明,外侧 CN 中谷氨酸能神经元的部分退化足以诱导共济失调表型。