Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations

Jingyi Zhu; Xiaomin Guo; Ningjing Ran; Jingtao Liang; Fuyou Liu; Junyan Liu; Rongyu Wang; Lianyan Jiang; Dongdong Yang; Meijun Liu

doi:10.3389/fgene.2022.1009230

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations

Front Genet. 2023 Jan 12:13:1009230. doi: 10.3389/fgene.2022.1009230. eCollection 2022.

Authors

Affiliations

¹ Neurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.
² School of Clinical Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, China.

Abstract

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase (DARS1) gene mutations, is extremely rare, with only a few cases reported worldwide; thus, reports on HBSL treatment are few. In this review, we summarized the clinical manifestations, imaging features, treatment methods, and gene mutations responsible for HBSL based on relevant studies and cases.

Keywords: DARS; HBSL; aspartyl-tRNA synthetase; leukoencephalopathy; mutation.

Publication types

Review