由突变引起的伴有脑干和脊髓受累及腿部痉挛的低髓鞘性白质脑病
Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by mutations.
作者信息
Zhu Jingyi, Guo Xiaomin, Ran Ningjing, Liang Jingtao, Liu Fuyou, Liu Junyan, Wang Rongyu, Jiang Lianyan, Yang Dongdong, Liu Meijun
机构信息
Neurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.
School of Clinical Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
出版信息
Front Genet. 2023 Jan 12;13:1009230. doi: 10.3389/fgene.2022.1009230. eCollection 2022.
Abstract
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase () 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.
摘要
由天冬氨酰 - tRNA合成酶（）基因突变引起的伴有脑干和脊髓受累及腿部痉挛的低髓鞘化疾病（HBSL）极为罕见，全球仅报道了少数病例；因此，关于HBSL治疗的报道很少。在本综述中，我们根据相关研究和病例总结了HBSL的临床表现、影像学特征、治疗方法及相关基因突变。
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