Burns Ted M, Phillips Lawrence H, Dimberg Elliot L, Vaught Barry K, Klein Christopher J
Department of Neurology, University of Virginia, Hospital Drive, McKim Hall, P.O. Box 800394, Charlottesville, VA 22908, USA.
Neuromuscul Disord. 2006 May;16(5):308-10. doi: 10.1016/j.nmd.2006.02.005. Epub 2006 Apr 17.
We present a patient with acute onset painful polyneuropathy found to have a novel MPZ mutation (Arg36Trp). The Arg36Trp mutation described in this report occurs at a putative adhesion interface. An alternative explanation for his polyneuropathy was not found and his mother was identified to have polyneuropathy and carry the same mutation. Two hundred normal controls were without this base alteration. The temporal profile of the index case may provide further indirect evidence suggesting an immune mechanism contributing to the pathogenesis of some cases of MPZ mutations. We predict that other rapid symptom onset polyneuropathies will be found to have direct genetic susceptibility.
我们报告了一名患有急性起病的疼痛性多发性神经病的患者，发现其存在一种新的MPZ突变（Arg36Trp）。本报告中描述的Arg36Trp突变发生在一个假定的黏附界面。未发现其多发性神经病的其他解释，并且确定他的母亲患有多发性神经病并携带相同的突变。200名正常对照未出现这种碱基改变。该索引病例的时间特征可能提供进一步的间接证据，提示免疫机制在某些MPZ突变病例的发病机制中起作用。我们预测，其他症状快速发作的多发性神经病将被发现具有直接的遗传易感性。
