Mouse Imaging Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Neuroimage. 2010 Nov 15;53(3):1023-9. doi: 10.1016/j.neuroimage.2010.03.038. Epub 2010 Mar 19.
Fragile X Syndrome (FXS) is the most common single gene cause of inherited mental impairment, and cognitive deficits can range from simple learning disabilities to mental retardation. Human FXS is caused by a loss of the Fragile X Mental Retardation Protein (FMRP). The fragile X knockout (FX KO) mouse also shows a loss of FMRP, as well as many of the physical and behavioural characteristics of human FXS. This work aims to characterize the anatomical changes between the FX KO and a corresponding wild type mouse. Significant volume decreases were found in two regions within the deep cerebellar nuclei, namely the nucleus interpositus and the fastigial nucleus, which may be caused by a loss of neurons as indicated by histological analysis. Well-known links between these nuclei and previously established behavioural and physical characteristics of FXS are discussed. The loss of FMRP has a significant effect on these two nuclei, and future studies of FXS should evaluate the biochemical, physiological, and behavioral consequences of alterations in these key nuclei.
脆性 X 综合征 (FXS) 是最常见的遗传性智力障碍的单一基因病因，认知缺陷的范围从单纯的学习障碍到智力迟钝不等。人类 FXS 是由脆性 X 智力迟钝蛋白 (FMRP) 的缺失引起的。脆性 X 敲除 (FX KO) 小鼠也表现出 FMRP 的缺失，以及许多人类 FXS 的身体和行为特征。这项工作旨在描述 FX KO 与相应的野生型小鼠之间的解剖变化。在深部小脑核内的两个区域，即中间核和顶核，发现了明显的体积减小，这可能是由于神经元缺失所致，组织学分析表明了这一点。讨论了这些核与先前建立的 FXS 的行为和身体特征之间的已知联系。FMRP 的缺失对这两个核有显著的影响，未来对 FXS 的研究应该评估这些关键核中变化的生化、生理和行为后果。
