【摘要】 目的 探讨巨轴索神经病的临床、神经病理和GAN基因变异特点。方法 回顾性分析1例巨轴索神经病患者及其家系的临床资料。结果 先证者7年前因双下肢进行性力弱，EMG示重度周围神经轴索病变。3年前双下肢无力加重，并出现双上肢无力，6个月前先证者出现肢体感觉异常，头颅MRI示双侧额、顶叶多发白质病变。腓肠神经活检拟诊巨轴索周围神经病。患者弟弟有类似临床症状，5岁时出现渐进性四肢无力，智力反应较同龄人差。先证者及其弟弟均检测到GAN基因复合杂合突变，家系遗传分析提示c.323C>T来自父亲，c.407＿410del来源于母亲。结论 巨轴索神经病临床表型具有多样性，常伴CNS受累。腓肠神经活检和基因检测是确诊的重要依据，c.323C>T和c.407＿410del为GAN基因新发的突变位点。更多还原

【Abstract】 Objective To explore the clinical, neuropathological and GAN gene mutation characteristics of giant axonal neuropathy. Methods Clinical data of one case of giant axonal neuropathy and her family were retrospectively analyzed. Results Seven years ago, the proband suffered from progressive weakness of both lower limbs, and EMG showed severe peripheral nerve axonopathy. Three years ago, the weakness of both lower limbs worsened, and the weakness of both upper limbs appeared. Six months ago, the proband developed limbs paresthesia. Brain MRI showed multiple white matter lesions in bilateral frontal and parietal lobes. Sural nerve biopsy predicted the diagnosis of giant axonal peripheral neuropathy. The proband’s younger brother had similar clinical symptoms. At age 5, her younger brother developed progressive limb weakness and poor mental response compared with his peers. Compound heterozygous mutation of GAN gene was detected in the proband and her younger brother, genetic analysis of pedigree suggests that c.323C>T comes from the father, and c.407＿410del comes from the mother. Conclusions The clinical phenotypes of giant axonal neuropathy are diverse and often accompanied by central nervous system involvement. Sural nerve biopsy and genetic testing are important basis for diagnosis, c.323C>T and c.407＿410del are the new mutation sites of GAN gene.更多还原