Pan J W, Lane J B, Hetherington H, Percy A K
Center for Nuclear Imaging Research, University of Alabama at Birmingham, USA.
J Child Neurol. 1999 Aug;14(8):524-8. doi: 10.1177/088307389901400808.
Rett syndrome, a neurodevelopmental disorder predominantly affecting girls, is characterized by regression of psychomotor development, communication dysfunction, and hand stereotypies. Brain morphologic studies demonstrate increased neuronal packing density and reduced dendritic arborizations, suggesting an arrest or interruption of normal maturation. Numerous neurotransmitter systems have been implicated. Among these, cerebrospinal fluid glutamate levels are elevated and glutamate receptors, particularly in putamen, are reduced. Therefore, 1H spectroscopy at 4.1 Tesla was used to evaluate glutamate, creatine, and N-acetylaspartate in six girls with Rett syndrome and four normal sibling controls. The ratio of creatine to N-acetylaspartate was significantly elevated in white matter, primarily reflecting reduced N-acetylaspartate levels, and normal in gray matter. The glutamate to N-acetylaspartate ratio was elevated in gray matter and normal in white matter. These findings are consistent with previous neuropathologic and neurochemical findings and indicate the feasibility of imaging these metabolites in vivo.
瑞特综合征是一种主要影响女童的神经发育障碍，其特征为精神运动发育倒退、沟通功能障碍和手部刻板动作。脑形态学研究显示神经元堆积密度增加和树突分支减少，提示正常成熟过程停滞或中断。众多神经递质系统都与此有关。其中，脑脊液谷氨酸水平升高，而谷氨酸受体，尤其是壳核中的谷氨酸受体减少。因此，使用4.1特斯拉的磁共振氢谱来评估6名瑞特综合征女童和4名正常同胞对照者的谷氨酸、肌酸和N-乙酰天门冬氨酸水平。肌酸与N-乙酰天门冬氨酸的比值在白质中显著升高，主要反映N-乙酰天门冬氨酸水平降低，而在灰质中正常。谷氨酸与N-乙酰天门冬氨酸的比值在灰质中升高，在白质中正常。这些发现与先前的神经病理学和神经化学研究结果一致，并表明在体内对这些代谢物进行成像的可行性。
