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

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

Genes Dis. 2020 Jan 28;8(5):709-714. doi: 10.1016/j.gendis.2020.01.009. eCollection 2021 Sep.

Authors

Yu Zhang¹, Guoyong Zhang¹, Wenhui Chen¹, Zheng Pu¹, Lu Song¹, Xinghua Tang¹, Zhenguo Liu¹

Affiliation

¹ Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, PR China.

Abstract

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 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.

Keywords: ABCD1gene; Adrenomyeloneuropathy; China; Mutation; Very-long-chain fatty acids.