Neusch C, Senderek J, Eggermann T, Elolff E, Bähr M, Schneider-Gold C
Department of Neurology, University Göttingen, Göttingen, Germany.
Eur J Neurol. 2007 May;14(5):575-7. doi: 10.1111/j.1468-1331.2006.01688.x.
Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c.281G-->A) in the MFN2 gene. Clinically, the patient presented with early-onset CMT that was not associated with additional central nervous system pathology. The disease course was rapidly progressive in the first years and slowed afterwards. We also suggest that single patients with early-onset axonal polyneuropathies should be screened for MFN2 mutations.
夏科-马里-图思病（CMT）已被分为两种类型：脱髓鞘型（CMT1）和轴索性（CMT2）。CMT2A位点的突变与KIF1B和线粒体融合蛋白2（MFN2）基因有关。在此，我们报告一名患有CMT2的德国患者，其MFN2基因存在潜在的自发突变（c.281G→A）。临床上，该患者表现为早发性CMT，且与其他中枢神经系统病变无关。病程在最初几年进展迅速，之后减缓。我们还建议，对于早发性轴索性多发性神经病的单个患者，应筛查MFN2突变。
