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Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene 被引量:1

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
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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).
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2018年第19期2371-2372,共2页 中华医学杂志(英文版)
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