Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene
复制标题
DOI：
10.1136/jnnp.66.2.202
复制
发表时间：
1999-02-01
影响因子：
11
通讯作者：
Dichgans, J
中科院分区：
文献类型：
--
作者：
Bähr, M;Andres, F;Dichgans, J
背景X连锁显性遗传性Charcot-Marie-Tooth病(CMT1X)是一种主要累及周围神经系统的遗传性运动和感觉神经病。CA IT1X与缝隙连接蛋白Cx32(Cx32)的突变有关。方法：对1个CMT1X家系进行临床和电生理检查，以确定Cx32基因突变是否存在PNS或CNS，或两者同时存在。结果：在一个CMT1X家系中，在Cx32的第4个跨膜区发现一个新的突变(Asn205Ser)。患者在三叉神经节表现出典型的临床和电生理异常，但除此之外，中枢神经系统的视觉、听觉和运动通路也受到亚临床影响。视觉诱发电位(VEP)、脑干听觉诱发电位(BAEP)和中枢运动诱发电位(CMEP)的病理改变表明了这一点。结论-这些发现强调了仔细分析CMT和Cx32突变患者中枢神经系统通路的必要性。中枢神经系统通路检查中的异常电生理表现应引起对CMTX的怀疑，应考虑寻找Cx32的基因突变。
Background-X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CA IT1X is associated with mutations in the gap junction protein connexin 32 (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral (PNS) and in the (CNS) respectively.Methods-A CMT1X family with a Cx32 mutation was examined clinically and electrophysiologically to determine whether PNS, or CNS, or both pathways were affected.Results-In a CMT1X family a novel mutation (Asn205Ser) was found in the fourth transmembrane domain of Cx32. The patients showed typical clinical and electrophysiological abnormalities in the PNS, but in addition visual, acoustic, and motor pathways of the CNS were affected subclinically. This was indicated by pathological changes in visually evoked potentials (VEPs), brainstem auditory evoked potentials (BAEPs), and central motor evoked potentials (CMEPs).Conclusions-These findings underscore the necessity of a careful analysis of CNS pathways in patients with CMT and Cx32 mutations. Abnormal electrophysiological findings in CNS pathway examinations should raise the suspicion of CMTX and a search for gene mutations towards Cx32 should be considered.