Miller R G, Gutmann L, Lewis R A, Sumner A J
Muscle Nerve. 1985 Mar-Apr;8(3):205-10. doi: 10.1002/mus.880080305.
The electrophysiologic differences between chronic acquired demyelinative neuropathy and the demyelinative form of Charcot-Marie-Tooth disease have recently been reported. The present report extends these observations to include the genetically determined demyelinating neuropathies seen in metachromatic leukodystrophy, Krabbe's leukodystrophy, and Cockayne's syndrome. The electrophysiologic features of metachromatic leukodystrophy (five patients), Krabbe's (four patients), and Cockayne's syndrome (three patients) were all similar. There was uniform slowing of conduction (both in different nerves and in different nerve segments), and conduction block was not seen. These findings are consistent with a uniform degree of demyelination in multiple nerves and throughout the entire length of individual axons. Thus, uniform slowing of nerve conduction constitutes strong evidence for a familial demyelinative neuropathy, as opposed to the multifocal slowing seen in acute and chronic acquired demyelinative neuropathy.
近期有报道称慢性获得性脱髓鞘性神经病与夏科-马里-图斯病的脱髓鞘形式之间存在电生理差异。本报告将这些观察结果进行了扩展，纳入了在异染性脑白质营养不良、克拉伯病和科凯恩综合征中所见的遗传性脱髓鞘性神经病。异染性脑白质营养不良（5例患者）、克拉伯病（4例患者）和科凯恩综合征（3例患者）的电生理特征均相似。均存在传导一致减慢（在不同神经以及不同神经节段），且未见传导阻滞。这些发现与多条神经以及单个轴突全长存在一致程度的脱髓鞘相符。因此，神经传导一致减慢构成了家族性脱髓鞘性神经病的有力证据，这与急性和慢性获得性脱髓鞘性神经病中所见的多灶性减慢形成对比。
