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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Autores principales: Zhu, Jingyi, Guo, Xiaomin, Ran, Ningjing, Liang, Jingtao, Liu, Fuyou, Liu, Junyan, Wang, Rongyu, Jiang, Lianyan, Yang, Dongdong, Liu, Meijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878823/
https://www.ncbi.nlm.nih.gov/pubmed/36712860
http://dx.doi.org/10.3389/fgene.2022.1009230
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author Zhu, Jingyi
Guo, Xiaomin
Ran, Ningjing
Liang, Jingtao
Liu, Fuyou
Liu, Junyan
Wang, Rongyu
Jiang, Lianyan
Yang, Dongdong
Liu, Meijun
author_facet Zhu, Jingyi
Guo, Xiaomin
Ran, Ningjing
Liang, Jingtao
Liu, Fuyou
Liu, Junyan
Wang, Rongyu
Jiang, Lianyan
Yang, Dongdong
Liu, Meijun
author_sort Zhu, Jingyi
collection PubMed
description 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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spelling pubmed-98788232023-01-27 Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations Zhu, Jingyi Guo, Xiaomin Ran, Ningjing Liang, Jingtao Liu, Fuyou Liu, Junyan Wang, Rongyu Jiang, Lianyan Yang, Dongdong Liu, Meijun Front Genet Genetics 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. Frontiers Media S.A. 2023-01-12 /pmc/articles/PMC9878823/ /pubmed/36712860 http://dx.doi.org/10.3389/fgene.2022.1009230 Text en Copyright © 2023 Zhu, Guo, Ran, Liang, Liu, Liu, Wang, Jiang, Yang and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Zhu, Jingyi
Guo, Xiaomin
Ran, Ningjing
Liang, Jingtao
Liu, Fuyou
Liu, Junyan
Wang, Rongyu
Jiang, Lianyan
Yang, Dongdong
Liu, Meijun
Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
title Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
title_full Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
title_fullStr Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
title_full_unstemmed Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
title_short Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
title_sort leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by dars1 mutations
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878823/
https://www.ncbi.nlm.nih.gov/pubmed/36712860
http://dx.doi.org/10.3389/fgene.2022.1009230
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