伴有双侧小脑中脚受累的遗传性运动和感觉神经病VI型
Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.
作者信息
Oh Jung-Hwan, Lee Han Sang, Cha Dong Min, Kang Sa-Yoon
机构信息
Department of Neurology, JeJu National University Hospital, JeJu 690-767, Korea.
Department of Neurology, Seoul National University Hospital, Seoul 110-744, Korea.
出版信息
Exp Neurobiol. 2014 Sep;23(3):266-9. doi: 10.5607/en.2014.23.3.266. Epub 2014 Sep 18.
Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.
伴有视神经萎缩的夏科-马里-图思病（CMT）2A型被称为遗传性运动和感觉神经病VI型（HMSN VI），由线粒体融合蛋白2基因（MFN2）突变引起。在与MFN2相关的CMT患者中，已知中枢神经系统也会受累，且大脑白质受累最为常见。我们报告了一名经脑MRI确诊为HMSN VI的患者，其脑内双侧小脑中脚出现孤立性病变。
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