INTRODUCTION: Giant axonal neuropathy (GAN) is a rare autosomal recessive 
neurodegenerative disorder caused by mutations in the GAN gene. Herein we report 
ultrastructural changes in Chinese patients with GAN.
METHODS: General clinical assessment, sural nerve biopsy, and genetic analysis 
were performed.
RESULTS: Sural biopsy revealed giant axons in 3 patients, 2 with a mild 
phenotype and 1 with a classical phenotype. Ultrastructurally, all patients had 
giant axons filled with closely packed neurofilaments. In addition, the 
classical patient had some axons containing irregular tubular-like structures. 
GAN mutation analysis revealed novel compound heterozygous c.98A>C and c.158C>T 
mutations in the BTB domain in 1 mild patient, a novel homozygous c.371T>G 
mutation in the BACK domain in another mild patient, and a novel c.1342G>T 
homozygous mutation in the Kelch domain in the classical patient.
CONCLUSION: Closely packed neurofilaments in giant axons are common pathological 
changes in Chinese patients with GAN, whereas irregular tubular-like structures 
appear in the classical type of this neuropathy.