Tsuboi T, Nielsen J, Nagayama I
Department of Human Genetics, Tokyo Metropolitan Institute for Neurosciences, Japan.
Hum Genet. 1988 Mar;78(3):206-15. doi: 10.1007/BF00291663.
A qualitative and quantitative analysis was performed on the EEG background activity in 62 Danish girls and women with Turner's syndrome (30 with karyotype 45,X and 32 with other karyotypes) whose ages ranged from 6 to 47 years (87% were aged 15 years or more) and age-matched controls. The pooled data and a case-control study showed characteristic features in Turner subjects, including: (1) more rapid frequency, larger amplitude and lower amount of alpha waves, (2) higher amount of theta waves, (3) larger amplitude and higher amount of delta waves and (4) larger amplitude and higher amount of beta waves than in controls. These findings in Turner subjects were more pronounced in the left hemisphere, and more typical, except for the amplitude in alpha waves, in Turner subjects with 45,X than in those with other karyotypes. The effects of advancing age on the EEG background activity observed in controls--including more rapid frequency, decreased amplitude and amount of alpha waves, increased amount of theta and delta waves, and increased amount of beta waves, particularly after 35 years of age--were found in some Turner subjects. Hemispheric differences with higher activity (i.e. more rapid frequency, larger amplitude and higher amount of alpha waves, particularly at Fp1 and F3, and, inversely, lower amount of theta or delta waves) at P3, T3, T5 and O2 than at the opposite side were found in many Turner subjects. However, these findings were not specific for Turner subjects, since the same hemispheric differences were also observed much more markedly in controls. These topographic distributions with hemispheric differences did not provide evidence for hypofunction in the temporo-parieto-occipital tertiary area of the right hemisphere in Turner subjects, though this had been expected on the basis of neuropsychological examinations. Our findings, including transiently appearing brain hypofunction at the parietal, temporal and occipital areas, most often in the right hemisphere, indicate a relationship between the chromosomal constitution 45,X and EEG background activity. They suggest the presence of functional brain disturbance in the thalamus and in the ascending reticular activating system, which tends to disturb the thalamo-cortical circuit. Further studies, including topographic and sequential power spectrum analysis of EEG background activity, 24-h continuous EEG recording, blood flow studies (positron computerized tomography) and neuropathological examination, may be needed.
对62名丹麦特纳综合征女孩和女性（30名核型为45,X，32名核型为其他类型）的脑电图背景活动进行了定性和定量分析，这些患者年龄在6至47岁之间（87%的患者年龄在15岁及以上），并与年龄匹配的对照组进行了比较。汇总数据和病例对照研究显示，特纳综合征患者具有以下特征：（1）阿尔法波频率更快、振幅更大、数量更少；（2）西塔波数量更多；（3）德尔塔波振幅更大、数量更多；（4）贝塔波振幅更大、数量更多。特纳综合征患者的这些发现，在左半球更为明显，并且在核型为45,X的特纳综合征患者中，除阿尔法波振幅外，比核型为其他类型的患者更为典型。在一些特纳综合征患者中，发现了与对照组中观察到的年龄增长对脑电图背景活动的影响相同的情况，包括频率更快、阿尔法波振幅和数量减少、西塔波和德尔塔波数量增加以及贝塔波数量增加，尤其是在35岁之后。在许多特纳综合征患者中，发现了半球差异，即在P3、T3、T5和O2处的活动高于对侧（即频率更快、振幅更大、阿尔法波数量更多，尤其是在Fp1和F3处，相反，西塔波或德尔塔波数量更少）。然而这些发现并非特纳综合征患者所特有，因为在对照组中也更明显地观察到了相同的半球差异。尽管根据神经心理学检查预期会出现这种情况，但这些具有半球差异的地形分布并未为特纳综合征患者右半球颞顶枕三级区域功能减退提供证据。我们的研究结果，包括顶叶、颞叶和枕叶区域，最常见于右半球，偶尔出现的脑功能减退，表明染色体构成45,X与脑电图背景活动之间存在关联。这些结果提示丘脑和上行网状激活系统存在功能性脑功能障碍，这往往会干扰丘脑 - 皮质回路。可能需要进一步的研究，包括脑电图背景活动的地形和序列功率谱分析、24小时连续脑电图记录、血流研究（正电子计算机断层扫描）和神经病理学检查。
