Frontiers in Genetics (Jan 2023)

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
https://doi.org/10.3389/fgene.2022.1009230
Journal volume & issue
Vol. 13

Abstract

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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.

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