Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene  

作　　者：Shuang Cai Jie Lin Yi-Qi Liu Jia-Hong Lu Chong-Bo Zhao 

机构地区：[1]Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China

出　　处：《Chinese Medical Journal》2018年第19期2371-2372,共2页中华医学杂志（英文版）

摘　　要：To the Editor： Giant axonal neuropathy （GAN） is a rare neurodegenerative disease caused by recessive mutations in CAN gene encoding gigaxonin. Nerve pathology orGAN shows typical giant axon with accumulating intermediate filaments. The disease is progressive with impairments in both peripheral and central nervous system. Here, we reported a case presenting gait disturbance, giant axon in nerve biopsy, and abnormalities in brain magnetic resonance imaging （MRI）.To the Editor： Giant axonal neuropathy （GAN） is a rare neurodegenerative disease caused by recessive mutations in CAN gene encoding gigaxonin. Nerve pathology orGAN shows typical giant axon with accumulating intermediate filaments. The disease is progressive with impairments in both peripheral and central nervous system. Here, we reported a case presenting gait disturbance, giant axon in nerve biopsy, and abnormalities in brain magnetic resonance imaging （MRI）.

分 类 号：Q78[生物学—分子生物学] D918.9[政治法律—法学]