Xie Chong, Zhou Xiajun, Zhu Desheng, Liu Wei, Wang Xiaoqing, Yang Hong, Li Zezhi, Hao Yong, Zhang Guang-Xian, Guan Yangtai
Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433, China.
Department of Neurology, Renji Hospital, Shanghai Jiaotong University, 160 Pujian Road, Shanghai, China.
Neurol Sci. 2016 Jul;37(7):1063-70. doi: 10.1007/s10072-016-2537-6. Epub 2016 Apr 20.
X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thymine to cytosine mutation at nucleotide position 445 in the connexin 32 allele of the GJB1 gene was identified. During the 6-year longitudinal study, patient's motor and sensory function did not worsen; radiological abnormalities correlated with episodes of CNS dysfunction and resolved after clinical recovery; electrophysiological records showed no obvious change. Little change in the patient's clinical, radiological and electrophysiological results over the follow-up reflected a slow disease progression.
X连锁遗传性腓骨肌萎缩症1型（CMTX1）是最常见的遗传性神经疾病之一。明显的中枢神经系统受累在CMTX1患者中相对少见。一名24岁的CMTX1男性患者出现了三次短暂性类似中风发作，并通过脑部MRI和电生理检查进行了6年的定期随访。在双侧深部白质中发现T2成像上的短暂对称性高信号和扩散受限。电生理测量显示为感觉运动性周围神经病，神经传导速度略有降低。在GJB1基因的连接蛋白32等位基因的核苷酸位置445处鉴定出一个新的胸腺嘧啶到胞嘧啶的突变。在6年的纵向研究中，患者的运动和感觉功能没有恶化；影像学异常与中枢神经系统功能障碍发作相关，并在临床恢复后消失；电生理记录没有明显变化。随访期间患者临床、影像学和电生理结果变化不大，反映出疾病进展缓慢。
