Murru M R, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, Cherchi M V, Mura M, Barberini L, Mallarini G, Marrosu M G
Centro Sclerosi Multipla, Ospedale Binaghi, Via I. Guadazzonis 2, I-09126 Cagliari, Italy.
Neurol Sci. 2006 Apr;27(1):18-23. doi: 10.1007/s10072-006-0560-8.
The objective of this study was to study genetic and phenotypic features of a family with X-linked Charcot-Marie-Tooth consisting of a healthy father, affected mother, two affected sons and one healthy one. A detailed electrophysiological and neuroimaging study, along with sequencing of the Cx32 gene, was performed in all family members. A novel Cx32 123 G>C mutation, determining an aminoacid variation (Glu41Asp), was found in the mother and the affected sons. An alteration in brainstem evoked potentials was found in the mother and one affected son. The affected son, who underwent magnetic resonance imaging, showed symmetrical hyperintensities in paratrigonal white matter, not found in his heterozygous mother, while both subjects exhibited alterations in brain metabolite ratios derived from localised proton-magnetic resonance spectroscopy. These data extend previous findings about central nervous system involvement in Cx32 mutated subjects and further support a functional role of the protein expression in oligodendrocytes.
本研究的目的是研究一个患有X连锁型夏科-马里-图斯病的家系的遗传和表型特征，该家系包括一位健康的父亲、患病的母亲、两个患病的儿子和一个健康的儿子。对所有家庭成员进行了详细的电生理和神经影像学研究，以及Cx32基因测序。在母亲和患病儿子中发现了一种新的Cx32 123 G>C突变，该突变导致氨基酸变异（Glu41Asp）。在母亲和一名患病儿子中发现脑干诱发电位改变。接受磁共振成像的患病儿子在三角旁白质中显示出对称的高信号，其杂合子母亲未出现这种情况，而两名受试者均表现出来自局部质子磁共振波谱的脑代谢物比率改变。这些数据扩展了先前关于Cx32突变受试者中枢神经系统受累的研究结果，并进一步支持了少突胶质细胞中蛋白质表达的功能作用。
