Alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy： a case report and literature review
10.19845/j.cnki.zfysjjbzz.2024.0030
- VernacularTitle:线粒体丙氨酰t-RNA合成酶2基因突变相关的脑白质病1例及文献回顾
- Author:
Zhao LIU
1
;
Lirong FENG
1
;
Dongjun WAN
1
Author Information
1. Department of Neurology，The 940 Hospital of Joint Logistic Support Force of PLA，Lanzhou 730050，China
- Publication Type:Journal Article
- Keywords:
AARS2 gene;
Adult‐onset leukoencephalopathy;
Ovarian failure
- From:
Journal of Apoplexy and Nervous Diseases
2024;41(2):156-160
- CountryChina
- Language:Chinese
-
Abstract:
Alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy： a case report and literature review Alanyl-transfer RNA synthetase 2（AARS2）mutation-related leukoencephalopathy（AARS2-L）is a rare adult-onset leukodystrophy，with only 32 cases reported in the literature. This article reports a case of a female patient，aged 44 years，who had progressive cognitive impairment，mental and behavioral disorders，and ovarian failure. Cranial magnetic resonance imaging showed extensive white matter demyelination in both hemispheres，and whole-exome sequencing revealed compound heterozygous mutations，c.179 C>A and c.2752 C>T，in the AARS2 gene. Therefore，the patient was diagnosed with AARS2-L with reference to clinical features. Furthermore，this article reviews and analyzes the clinical and gene expression features of the cases reported in previous studies.
