Reiss A L, Lee J, Freund L
Kennedy Krieger Institute, Baltimore, MD 21205.
Neurology. 1994 Jul;44(7):1317-24. doi: 10.1212/wnl.44.7.1317.
Fragile X syndrome, an X-linked genetic disorder caused by a mutation in the FMR-1 gene, is associated with a particular profile of abnormalities of behavior, learning, language, and memory, suggesting temporal lobe dysfunction. We undertook a quantitative neuroimaging study investigating the neuroanatomy of the temporal lobe in individuals with the fragile X mutation. The temporal lobe neuroanatomy of 15 young fragile X subjects was quantified and compared with that of 26 age- and IQ-matched control subjects. Analyses showed the right and left hippocampal volumes to be significantly larger in the fragile X group compared with the control group. Subjects with the fragile X mutation showed an age-related increase in volume of the hippocampus an age-related decrease in volume of the superior temporal gyrus. Along with the findings of previous imaging studies of fragile X subjects, the results of the present investigation are consistent with studies showing a nonrandom distribution of expression of the FMR-1 gene in the developing brain, with increased expression in the cerebellum, hippocampus, and specific cortical regions. The results also suggest involvement of temporal lobe regions in the behavioral and cognitive abnormalities associated with fragile X syndrome.
脆性X综合征是一种由FMR - 1基因突变引起的X连锁遗传性疾病，与行为、学习、语言和记忆方面的特定异常特征相关，提示颞叶功能障碍。我们进行了一项定量神经影像学研究，调查携带脆性X突变个体的颞叶神经解剖结构。对15名年轻脆性X受试者的颞叶神经解剖结构进行了量化，并与26名年龄和智商匹配的对照受试者进行了比较。分析显示，与对照组相比，脆性X组的左右海马体积明显更大。携带脆性X突变的受试者海马体积随年龄增长而增加，颞上回体积随年龄增长而减少。与之前对脆性X受试者的影像学研究结果一致，本研究结果与显示FMR - 1基因在发育中的大脑中表达呈非随机分布、在小脑、海马和特定皮质区域表达增加的研究相符。结果还表明，颞叶区域参与了与脆性X综合征相关的行为和认知异常。
