Pampiglione G, Harden A
Neuropediatrics. 1984 Sep;15 Suppl:74-84. doi: 10.1055/s-2008-1052386.
Neurophysiological studies (EEG, ERG, VEP and BAEP) have been carried out on a total of fifty-four patients (fourty-five GM2 and nine GM1 gangliosidosis) at various stages of the disease process. In infantile GM2 gangliosidosis, the EEG was midly abnormal from an early age but by the age of one year there was a rapid and progressive deterioration. EEG changes in late onset GM2 gangliosidosis were very variable and unrelated to age or enzyme defect. In both Type 1 and Type 2 GM1 gangliosidosis there was a progressive deterioration of the EEG. Paroxysmal features were not prominent in any of the gangliosidoses, despite the occurrence of seizures. The ERG remained normal in both GM2 and GM1 patients. In the infantile GM2 patients there was progressive loss of the VEP between nine and fifteen months of age but the timing of VEP changes were more variable in all the other groups. Evidence of brainstem dysfunction was found in one of the two TSD patients tested. The combined neurophysiological features appear to be characteristic for each group of gangliosidosis and differ from other neurometabolic disorders of childhood.
我们对54例处于疾病不同阶段的患者（45例GM2神经节苷脂沉积症和9例GM1神经节苷脂沉积症）进行了神经生理学研究（脑电图、视网膜电图、视觉诱发电位和脑干听觉诱发电位）。在婴儿型GM2神经节苷脂沉积症中，脑电图从早期就有轻度异常，但到1岁时会迅速且进行性恶化。晚发型GM2神经节苷脂沉积症的脑电图变化差异很大，与年龄或酶缺陷无关。在1型和2型GM1神经节苷脂沉积症中，脑电图均呈进行性恶化。尽管有癫痫发作，但在任何一种神经节苷脂沉积症中，阵发性特征都不突出。GM2和GM1患者的视网膜电图均保持正常。在婴儿型GM2患者中，9至15个月大时视觉诱发电位逐渐丧失，但在所有其他组中，视觉诱发电位变化的时间更具变异性。在接受测试的2例泰-萨氏病患者中，有1例发现脑干功能障碍的证据。综合神经生理学特征似乎是每组神经节苷脂沉积症所特有的，与儿童期其他神经代谢疾病不同。
