AARS2-related leukoencephalopathy due to c.244T>A gene mutation:a case report and literature review
LIU Haoxin
DONG Chunxia
YIN Junbin
HU Huaiqiang
Abstract：This study reports the first case of mitochondrial alanyl-tRNA synthetase 2(AARS2)-related leukoencephalopathy(AARS2-L)caused by a c.244T>A gene mutation,detailing its clinical manifestations,imaging characteristics,and genetic features.The patient,a male who developed symptoms at age 15,initially presented with tremor and progressively developed cerebellar ataxia.Brain magnetic resonance imaging(MRI)revealed periventricular white matter lesions,corpus callosum involvement,and cerebral atrophy.Genetic testing identified compound heterozygous mutations in the AARS2 gene:[c.244T>A(p.Phe82Ile)and c.452T>C(p.Met151Thr)].Additionally,this report reviews the clinical features and genetic expressions of other AARS2-L cases with the c.452T>C mutation documented in the literature.
Keywords：AARS2 gene mutationLeukodystrophy
Publication Date：2025-10-28
Online Publishing Date：2025-10-09(First online date of this platform, not the publication date of the document)
Pages：5( 149-153 )