Reiss A L, Patel S, Kumar A J, Freund L
Johns Hopkins University School of Medicine, Department of Psychiatry, Baltimore, Maryland.
Am J Med Genet. 1988 Oct;31(2):407-14. doi: 10.1002/ajmg.1320310220.
Four men with fragile X (fra (X], or Martin-Bell, syndrome were studied by magnetic resonance imaging (MRI) to determine whether detectable abnormalities of the cerebellum were present. The cerebellum was chosen because of the apparently increased tendency for fra (X) patients to demonstrate autistic behavior and accumulating evidence implicating cerebellar abnormalities in autism. Compared with a control group of four normal men, fra (X) patients had a significantly decreased area of the cerebellar vermis, particularly the posterior portion, on planimetric analysis in the midsagittal plane. The pons and fourth ventricular areas also were decreased and increased, respectively, in the fra (X) men. Neuroanatomical and animal research increasingly implicates the cerebellar vermis as an important component in functional brain systems subserving sensory and motor integration, learning, and modulation of affect, motivation, and social behavior. Thus, vermis dysfunction could account for many of the behavioral and cognitive abnormalities observed in fra (X) males, particularly those which overlap with the behavioral syndrome of autism.
对四名患有脆性X综合征（fra (X]，即马丁-贝尔综合征）的男性进行了磁共振成像（MRI）研究，以确定小脑是否存在可检测到的异常。选择小脑进行研究是因为fra (X)患者表现出自闭行为的倾向明显增加，且越来越多的证据表明小脑异常与自闭症有关。与四名正常男性组成的对照组相比，通过矢状面平面测量分析，fra (X)患者的小脑蚓部面积显著减小，尤其是后部。在fra (X)男性中，脑桥面积减小，第四脑室面积增大。神经解剖学和动物研究越来越表明，小脑蚓部是服务于感觉和运动整合、学习以及情感、动机和社会行为调节的功能性脑系统的重要组成部分。因此，蚓部功能障碍可能是fra (X)男性中观察到的许多行为和认知异常的原因，尤其是那些与自闭症行为综合征重叠的异常。
