Bhagavati Satyakam, Maccabee Paul J, Xu Weimin
Department of Neurology, SUNY Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, NY 11203, USA.
J Clin Neurosci. 2009 Jun;16(6):830-1. doi: 10.1016/j.jocn.2008.08.030. Epub 2009 Mar 14.
We report the detailed clinical, electrophysiological and molecular analysis of a patient with Charcot-Marie-Tooth (CMT) disease. DNA sequencing of the coding sequences of the neurofilament light chain polypeptide (NEFL) gene revealed a c.64C>T heterozygous, missense mutation resulting in a Pro22Ser amino acid substitution. Clinical and electrophysiological studies revealed a mixed axonal and demyelinating neuropathy, with widespread demyelination involving both proximal and distal nerve segments. Mutations at this site in the NEFL gene have been previously linked to an axonal neuropathy or distal nerve demyelination. Our results emphasize the complexity of genotype-phenotype correlations in CMT and underline the possible importance of host factors and gene interactions in the development of clinical phenotypes.
我们报告了一例夏科-马里-图斯（CMT）病患者的详细临床、电生理和分子分析情况。神经丝轻链多肽（NEFL）基因编码序列的DNA测序显示存在一个c.64C>T杂合错义突变，导致脯氨酸22被丝氨酸取代。临床和电生理研究显示为轴索性和脱髓鞘性混合性神经病变，广泛的脱髓鞘累及近端和远端神经节段。NEFL基因该位点的突变此前已与轴索性神经病变或远端神经脱髓鞘相关联。我们的结果强调了CMT中基因型-表型相关性的复杂性，并突显了宿主因素和基因相互作用在临床表型发展中的潜在重要性。
