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  

Alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy:a case report and literature review

作　　者：刘曌 冯丽荣 万东君[1] LIU Zhao;FENG Lirong;WAN Dongjun(Department of Neurology,The 940 Hospital of Joint Logistic Support Force of PLA,Lanzhou 730050,China)

机构地区：[1]中国人民解放军联勤保障部队第940医院神经内科,甘肃兰州730050

出　　处：《中风与神经疾病杂志》2024年第2期156-160,共5页Journal of Apoplexy and Nervous Diseases

基　　金：甘肃省青年科技基金计划项目(20JR5RA590)。

摘　　要：线粒体丙氨酰t-RNA合成酶2(alanyl-transfer RNA synthetase 2,AARS2)基因突变相关的脑白质病(AARS2 leukoencephalopathy,AARS2-L)是一种罕见的迟发性脑白质营养不良,文献报道仅32例。本文报道1例44岁女性患者进行性认知障碍下降、精神行为异常5年,同时合并卵巢功能衰退;头部磁共振成像显示双侧大脑半球广泛的白质脱髓鞘;基因全外显子测序发现AARS2基因复合杂合突变(c.179 C>A和c.2752 C>T),结合临床特征该患者被诊断为AARS2-L。同时,对目前已报道的AARS2-L病例的临床特征和基因表达特点等进行了回顾与分析。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 leuko‑dystrophy,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 com‑pound 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 ex‑pression features of the cases reported in previous studies.

关 键 词：AARS2基因 成人脑白质病 卵巢衰竭 

分 类 号：R742[医药卫生—神经病学与精神病学]