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

Yu Zhang; Guoyong Zhang; Wenhui Chen; Zheng Pu; Lu Song; Xinghua Tang; Zhenguo Liu

doi:10.1016/j.gendis.2020.01.009

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

更新时间：2022-06-24

- A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review
- Genes & Diseases Vol. 8, Issue 5, (2021)
- 作者机构：
  
  Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,PR China,200092
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2020.01.009
  CLC：
- Published：2021，
  
  Published Online：1 September 2021，
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Yu Zhang, Guoyong Zhang, Wenhui Chen, et al. A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review. [J]. Genes & Diseases 8(5).(2021)
DOI：

Yu Zhang, Guoyong Zhang, Wenhui Chen, et al. A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review. [J]. Genes & Diseases 8(5).(2021) DOI： 10.1016/j.gendis.2020.01.009.

摘要

Abstract

drenomyeloneuropathy (AMN) is a kind of varied disease caused by

ABCD1

gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed 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

Keywords

ABCD1geneAdrenomyeloneuropathyChinaMutationVery-long-chain fatty acids

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