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

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

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1009230

DOI=10.3389/fgene.2022.1009230

ISSN=1664-8021

ABSTRACT=<p>Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase (<italic>DARS1</italic>) 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.</p>