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.
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