Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease
Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease
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DOI：
10.1034/j.1600-0404.2003.01317.x
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发表时间：
2003-01-01
影响因子：
3.5
通讯作者：
Osame, M
中科院分区：
文献类型：
--
作者：
Takashima, H;Nakagawa, M;Osame, M
目的：阐明X连锁腓骨肌萎缩症（CMTX）患者的临床变异性，包括中枢神经系统（CNS）受累。材料和方法-我们的临床，病理学和遗传学研究6 CMTX患者不同的症状和四个不同的GJB 1突变。结果-1例Val 63 Ile患者出现耳聋、智力低下、眼球跳动、上肢远端优势肌无力和正常感觉。另一名Glu 186 Lys患者在6岁时出现严重的感音神经性耳聋，但直到20岁才出现肌无力。2例Arg 22 Gln患者具有典型的CMT 1A样临床特征，无中枢神经系统症状和明显的洋葱球形成。两个兄弟姐妹与整个GJB 1基因缺失有轻度至中度下肢肌无力和感觉障碍，没有中枢神经系统的参与。结论-这些发现表明，GJB 1的一些功能突变的获得可能与CNS症状有关，因为GJB 1缺失的患者仅患有周围神经病变，尽管其他未知的相关因素可能有助于其临床表型。
Objectives - To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked Charcot-Marie-Tooth disease (CMTX) patients. Materials and methods - We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. Results - One patient with Val63Ile had deafness, low intelligence, saccadic eye movement, upper extremity distal dominant muscle weakness and normal sensation. Another patient with Glu186Lys had severe sensorineural deafness at the age of 6 years, but did not develop muscle weakness until the age of 20 years. Two patients with Arg22Gln had typical CMT1A-like clinical features, no CNS symptoms and obvious onion bulb formations. Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement. Conclusion - These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.