Giant axonal neuropathy / 中华神经科杂志

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.