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

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

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 manifestat...

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Bibliographic Details
Main Authors: Jingyi Zhu, Xiaomin Guo, Ningjing Ran, Jingtao Liang, Fuyou Liu, Junyan Liu, Rongyu Wang, Lianyan Jiang, Dongdong Yang, Meijun Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
HBSL
aspartyl-tRNA synthetase
leukoencephalopathy
DARS
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1009230/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1009230/full

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