Alanyl-transfer ribonucleic acid synthetase 2 gene mutation producing leukodystrophy: a case report
10.3760/cma.j.cn113694-20201126-00909
- VernacularTitle:丙氨酰-转运核糖核酸合成酶2基因突变相关脑白质营养不良一例
- Author:
Haipeng JIN
1
;
Ying YANG
;
Xiangliang LI
;
Xuan ZHUANG
;
Sushan LUO
;
Chongbo ZHAO
Author Information
1. 北京中医药大学厦门医院针灸康复科361012
- Keywords:
Alanine-tRNA ligase;
Leukodystrophy;
Magnetic resonance imaging;
AARS2 gene;
Mutation
- From:
Chinese Journal of Neurology
2021;54(8):802-807
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features, imaging features and gene mutation of a paitent with alanyl-transfer ribonucleic acid synthetase 2 (AARS2) gene mutation- related leukodystrophy and further improve the understanding of this rare disease.Methods:Clinical data of a patient with leukodystrophy associated with AARS2 gene mutation diagnosed in October 2020 at Xiamen Hospital of Beijing University of Chinese Medicine and Huashan Hospital of Fudan University were collected.Results:The male patient, 25 years old, was admitted with the clinical manifestations, including chronic onset dyskinesia, ataxia, nystagmus and psoriasis. Head magnetic resonance imaging (MRI) showed bilateral white matter lesions and cerebellar atrophy. Spine MRI showed vertebral body incomplete fusion. Gene detection showed heterozygous compound AARS2 gene mutation [c.985C>T chr6:44275041(p.R329C) and c.452T>C chr6:44279256(p.M151T)].Conclusions:AARS2 gene mutation-related leukodystrophy is a rare mitochondrial disease in clinical practice. The patient presented with progressive motor deficits in the lower limbs, ataxia, relatively retained cognitive function. MRI revealed abnormal symmetry of corpus callosum and bilateral paraventricular white matter. Heterozygous compound AARS2 gene mutations [c.985C>T chr6:44275041 (p.R329C) and c.452T>C chr6:44279256 (p.M151T)] are one of the pathogenic factors leading to hereditary leukodystrophy.
