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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1009230/full |
| _version_ | 1797955191950016512 |
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| author | Jingyi Zhu Xiaomin Guo Ningjing Ran Jingtao Liang Fuyou Liu Junyan Liu Rongyu Wang Lianyan Jiang Dongdong Yang Meijun Liu |
| author_facet | Jingyi Zhu Xiaomin Guo Ningjing Ran Jingtao Liang Fuyou Liu Junyan Liu Rongyu Wang Lianyan Jiang Dongdong Yang Meijun Liu |
| author_sort | Jingyi Zhu |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-10T23:29:38Z |
| format | Article |
| id | doaj.art-3666d1643ddd48bfbd10a4b458cad0b3 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-10T23:29:38Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-3666d1643ddd48bfbd10a4b458cad0b32023-01-12T07:03:36ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-01-011310.3389/fgene.2022.10092301009230Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutationsJingyi Zhu0Xiaomin Guo1Ningjing Ran2Jingtao Liang3Fuyou Liu4Junyan Liu5Rongyu Wang6Lianyan Jiang7Dongdong Yang8Meijun Liu9Neurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaNeurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaNeurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaNeurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaNeurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaSchool of Clinical Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaSchool of Clinical Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaSchool of Clinical Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaNeurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaNeurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, ChinaHypomyelination 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.https://www.frontiersin.org/articles/10.3389/fgene.2022.1009230/fullHBSLaspartyl-tRNA synthetaseleukoencephalopathyDARSmutation |
| spellingShingle | Jingyi Zhu Xiaomin Guo Ningjing Ran Jingtao Liang Fuyou Liu Junyan Liu Rongyu Wang Lianyan Jiang Dongdong Yang Meijun Liu Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations Frontiers in Genetics HBSL aspartyl-tRNA synthetase leukoencephalopathy DARS mutation |
| 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 | HBSL aspartyl-tRNA synthetase leukoencephalopathy DARS mutation |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1009230/full |
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