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本文引用的文献

1
Structural Connectivity in Down Syndrome and Alzheimer's Disease.唐氏综合征与阿尔茨海默病中的结构连接性
Front Neurosci. 2022 Jul 22;16:908413. doi: 10.3389/fnins.2022.908413. eCollection 2022.
2
Abnormal mitochondria in Down syndrome iPSC-derived GABAergic interneurons and organoids.唐氏综合征 iPSC 衍生的 GABA 能中间神经元和类器官中的异常线粒体。
Biochim Biophys Acta Mol Basis Dis. 2022 Jun 1;1868(6):166388. doi: 10.1016/j.bbadis.2022.166388. Epub 2022 Mar 15.
3
6-Containing GABA Receptors: Functional Roles and Therapeutic Potentials.含 GABA 受体：功能作用与治疗潜力。
Pharmacol Rev. 2022 Jan;74(1):238-270. doi: 10.1124/pharmrev.121.000293.
4
Atypical electrophysiological and behavioral responses to diazepam in a leading mouse model of Down syndrome.在唐氏综合征的主要小鼠模型中，地西泮的非典型电生理和行为反应。
Sci Rep. 2021 May 4;11(1):9521. doi: 10.1038/s41598-021-89011-y.
5
Time-dependent diffusion MRI probes cerebellar microstructural alterations in a mouse model of Down syndrome.时间依赖性扩散磁共振成像检测唐氏综合征小鼠模型中的小脑微结构改变。
Brain Commun. 2021 Apr 5;3(2):fcab062. doi: 10.1093/braincomms/fcab062. eCollection 2021.
6
Direct Structural Insights into GABA Receptor Pharmacology.直接的结构洞察 GABA 受体药理学。
Trends Biochem Sci. 2021 Jun;46(6):502-517. doi: 10.1016/j.tibs.2021.01.011. Epub 2021 Mar 3.
7
Two Distinct Populations of α1α6-Containing GABAA-Receptors in Rat Cerebellum.大鼠小脑中含α1α6的GABAA受体的两种不同群体。
Front Synaptic Neurosci. 2020 Oct 6;12:591129. doi: 10.3389/fnsyn.2020.591129. eCollection 2020.
8
Gait and postural control patterns and rehabilitation in Down syndrome: a systematic review.唐氏综合征的步态与姿势控制模式及康复：一项系统综述
J Phys Ther Sci. 2020 Apr;32(4):303-314. doi: 10.1589/jpts.32.303. Epub 2020 Apr 2.
9
Hypoplasia of cerebellar afferent networks in Down syndrome revealed by DTI-driven tensor based morphometry.通过 DTI 驱动的基于张量的形态测量学揭示唐氏综合征小脑传入网络发育不良。
Sci Rep. 2020 Mar 25;10(1):5447. doi: 10.1038/s41598-020-61799-1.
10
Early alterations in cortical and cerebellar regional brain growth in Down Syndrome: An in vivo fetal and neonatal MRI assessment.唐氏综合征胎儿和新生儿脑 MRI 研究：皮质和小脑区域性脑生长的早期改变。
Neuroimage Clin. 2020;25:102139. doi: 10.1016/j.nicl.2019.102139. Epub 2019 Dec 23.

深入探讨唐氏综合征中的小脑功能障碍、运动缺陷和γ-氨基丁酸能信号传导

A Dive Into Cerebellar Dysfunction, Motor Deficits and GABAergic Signaling in Down Syndrome.

作者信息

Feely Shannon, Rios Rodriguez Misleydi, Shannon Alyssa, Young Serena, Rosales Justin Peter, Kaur Gurjinder

机构信息

Department of Basic Biomedical Sciences, Touro College of Osteopathic Medicine, Middletown, USA.

出版信息

Cureus. 2025 Feb 25;17(2):e79623. doi: 10.7759/cureus.79623. eCollection 2025 Feb.

DOI:10.7759/cureus.79623
PMID:40151699
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11949090/
Abstract

Down syndrome (DS) mouse models and DS human fetus studies clearly indicate severe neurogenesis impairment in the cerebellum. Clinical features of DS include motor dysfunction and cerebellar hypotrophy, with a particularly marked decrease in the number of granule cells (GCs). GCs are crucial for managing sensory communication within the cerebellum via mossy fibers and their interactions with Purkinje cells (PCs) and inhibitory interneurons. The current review discusses cerebellar alterations in DS and its impact on GABAergic transmission, bringing to light the impact on GABAergic signaling and its role in motor coordination dysfunction observed in individuals with DS. The findings highlight the significance of GABAergic transmission in the pathophysiology of DS and its potential as a target for therapeutic innervation. Moreover, understanding the disruptions in GABAergic signaling may provide insights into developing novel treatment strategies.

摘要

唐氏综合征（DS）小鼠模型和DS人类胎儿研究清楚地表明，小脑存在严重的神经发生损伤。DS的临床特征包括运动功能障碍和小脑发育不全，颗粒细胞（GCs）数量尤其明显减少。GCs对于通过苔藓纤维管理小脑中的感觉通讯以及它们与浦肯野细胞（PCs）和抑制性中间神经元的相互作用至关重要。本综述讨论了DS中的小脑改变及其对GABA能传递的影响，揭示了对GABA能信号传导的影响及其在DS个体中观察到的运动协调功能障碍中的作用。这些发现突出了GABA能传递在DS病理生理学中的重要性及其作为治疗性神经支配靶点的潜力。此外，了解GABA能信号传导的破坏可能为开发新的治疗策略提供见解。