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A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia

机译:家族性阵发性人源性运动障碍的新型 PRRT2 致病变异

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Morphological properties of cholinergic neurons in the hippocampus of transgenic ChAT-cre mice Animal behavior is regulated by structural and connectional properties of neuronal networks. Therefore, identification and clas- sification of morphological features of cell assemblies is crucial to our understanding of perceptual ability. Despite evidence that the neuromodulator acetylcholine contributes to learning and mem- ory formation, anatomical descriptions of its expression remain incomplete. Hence, in an effort to advance our understanding of the neuronal substrates of cognition, the present study employed genetic manipulation, florescent microscopy, and improvements in digital storage capacity techniques to delineate the topographic expression of cholinergic neurons across wide areas of the mouse brain. Specifically, super resolution images of genetically encoded markers within cholinergic neurons were acquired from cerebral regions of Ai32XChAT-cre mice. Identification of cell body location confirmed the well-established loci of cholinergic cells in the stria- tum, basal forebrain, and brainstem. Surprisingly however, was the identification of a small group of cholinergic neurons in the dorsal subiculum. These neurons displayed dendritic spines and atypical cell body topologies. This study expands current models of cholin- ergic cell morphology and loci manifestation by demonstrating and describing the existence of a marginally understood network of cholinergic cells in an area of the brain known to regulate memory formation.
机译:转基因ChAT-cre小鼠海马中胆碱能神经元的形态学特性动物行为受神经元网络的结构和连接特性调控。因此,细胞装配形态特征的识别和分类对于我们对知觉能力的理解至关重要。尽管有证据表明神经调节剂乙酰胆碱有助于学习和记忆形成,但对其表达的解剖学描述仍然不完整。因此,在努力增进我们对认知神经元底物的理解的过程中,本研究采用遗传操作,荧光显微镜和数字存储能力技术的改进来描绘小鼠脑大范围内胆碱能神经元的拓扑表达。具体而言,从Ai32XChAT-cre小鼠的大脑区域获取胆碱能神经元内遗传编码标记的超分辨率图像。细胞体位置的确定证实了在纹状体,基底前脑和脑干中胆碱能细胞的良好位置。然而,令人惊讶的是,在背侧亚壁中发现了一小群胆碱能神经元。这些神经元显示出树突棘和非典型细胞体拓扑。这项研究通过证明并描述了已知调节记忆形成的大脑区域中胆碱能细胞的边缘理解网络,从而扩展了目前胆碱能细胞形态和基因座表现模型。

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