Luo Si, Jin Hui, Chen Jiajun, Zhang Lei
Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, China.
Front Neurol. 2019 Apr 24;10:413. doi: 10.3389/fneur.2019.00413. eCollection 2019.
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a dominantly inherited peripheral neuropathy and is caused by mutations in gap junction beta 1 gene (). Here, a novel variant of c.-170T>G in was identified in a large Chinese CMTX1 pedigree. The proband presented transient "stroke-like" episodes in addition to the peripheral neuropathy. At the time of episode, he had transient hyperthyroidism. To our knowledge, this is the first variant found in non-coding region associated with transient central nervous system (CNS) symptoms and in this case, thyroid dysfunction might contribute to the episode. The mechanism of CMTX1 as well as the transient CNS symptoms waits to be elucidated.
X连锁遗传性1型腓骨肌萎缩症（CMTX1）是一种显性遗传的周围神经病，由缝隙连接蛋白β1基因（ ）突变引起。在此，在一个大型中国CMTX1家系中鉴定出 基因的一种新型c.-170T>G变异。先证者除周围神经病变外还出现短暂的“中风样”发作。发作时，他有短暂性甲状腺功能亢进。据我们所知，这是在非编码区发现的首个与短暂性中枢神经系统（CNS）症状相关的变异，在这种情况下，甲状腺功能障碍可能与发作有关。CMTX1以及短暂性CNS症状的机制有待阐明。
