Reisecker F, Leblhuber F, Deisenhammer E
Wien Klin Wochenschr. 1985 Aug 30;97(16):658-61.
Visual evoked potentials (VEP) were investigated in 12 members of a family with Charcot-Marie-Tooth disease, 7 of whom showed manifest clinical signs of the disease. The mean value of the latency P100 of VEP in the 12 patients did not differ significantly from the value in normal controls, nor did the values in members with considerably reduced nerve conduction velocities differ significantly from those in members with normal nerve conduction velocity. Among the investigated members of the family, however, there was a significant difference in mean P100 latency between family H.G. with no clinical signs of the disease and the family of the twin brother, F.G. with clear clinical and neurographic signs of HMSN I. The divergent opinions given in the literature may be explained by heterogeneity, as well as an extreme expression of the inherited defect and a combination of two independently inherited diseases.
对一个患有夏科-马里-图思病（Charcot-Marie-Tooth disease）的家族中的12名成员进行了视觉诱发电位（VEP）研究，其中7人表现出该疾病的明显临床症状。12名患者的VEP中P100潜伏期的平均值与正常对照组的值没有显著差异，神经传导速度明显降低的成员的值与神经传导速度正常的成员的值也没有显著差异。然而，在该家族的被调查成员中，没有该疾病临床症状的H.G.家族与有明确临床和神经电图症状的HMSN I双胞胎兄弟F.G.家族之间，平均P100潜伏期存在显著差异。文献中给出的不同观点可能是由于异质性、遗传缺陷的极端表现以及两种独立遗传疾病的组合所致。
