A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review  

作　　者：Yu Zhang Guoyong Zhang Wenhui Chen Zheng Pu Lu Song Xinghua Tang Zhenguo Liu 

机构地区：[1]Department of Neurology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,200092,PR China

出　　处：《Genes & Diseases》2021年第5期709-714,共6页基因与疾病（英文）

基　　金：The study was supported by the National key R&D Program of China[grant numbers 2017YFC1310300,2016YFC1306600];the National Natural Science Foun-dation of China[grant numbers 81301081,81601127]。

摘　　要：Adrenomyeloneuropathy(AMN)is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids(VLCFA)accumulation.It is diag-nosed by clinical features,high VLCFAs levels and ABCD1 gene mutation.AMN is rarely reported in Chinese population.In this study,we report the genetic and clinical features of a Chinese pure AMN patient.Meanwhile,we conducted a literature review of AMN cases to summarize the characteristics of AMN.We report a rare Chinese pure AMN case with slowly progressive weakness of the lower extremities,caused by a novel c.1202G>A mutation in ABCD1 gene.The literature review indicates that spastic paraplegia is the mainly clinical manifestation in patients with AMN.VLCFAs and ABCD1 gene test should be performed in patients with spastic paraplegia of the lower limbs to diagnose AMN.

关 键 词：ABCD1gene Adrenomyel-oneuropathy China MUTATION Very-long-chain fatty acids 

分 类 号：R741[医药卫生—神经病学与精神病学]