巨轴索神经病  

Giant axonal neuropathy

作　　者：胡静[1] 郭璇 Hu Jing;Guo Xuan(Department of Neuromuscular Diseases,the Third Hospital of Hebei Medical University,Shijiazhuang 050051,China)

机构地区：[1]河北医科大学第三医院神经肌肉病科,石家庄050051

出　　处：《中华神经科杂志》2023年第8期918-923,共6页Chinese Journal of Neurology

摘　　要：巨轴索神经病是一种罕见的儿童神经退行性疾病,呈常染色体隐性遗传,致病基因为巨轴突蛋白(GAN)基因,位于染色体16q23.2,编码巨轴突蛋白。GAN基因突变、巨轴突蛋白功能缺失、致中间丝结构蛋白破坏,均可导致严重的中枢、周围神经系统损害。文中就巨轴索神经病的发病机制、临床表现、诊断及鉴别诊断进行阐述,为临床对该疾病的诊治提供参考。Giant axonal neuropathy is a rare neurodegenerative disease in children,which is autosomal recessive inheritance.Giant axonal neuropathy is caused by homozygous or compound heterozygous mutation in the gigaxonin gene on chromosome 16q23.2.Giant axonal neuropathy is a chronic polyneuropathy that affects both the peripheral and central nervous systems.Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder.The article describes the pathogenesis,clinical manifestation,diagnosis and differential diagnosis of giant axonal neuropathy,to provide reference for clinical diagnosis and treatment of this disease.

关 键 词：巨轴索神经病 巨轴突蛋白 周围神经系统疾病 中枢神经系统 诊断 

分 类 号：R741[医药卫生—神经病学与精神病学]