Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Mitochondrial aminoacyl-tRNA synthetases—encoded by ARS2 genes—are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their cognate tRNAs, ensuring accuracy mitochondrial translation process. gene mutations are associated with a wide range clinical presentations affecting CNS. Two senior neuroradiologists analysed brain MRI 25 patients (age range: 3 d–25 yrs.; 11 males; 14 females) biallelic pathogenic variants genes in retrospective study conducted between 2002 and 2019. Though several combinations anomalies were highly suggestive specific aetiologies (DARS2, EARS2, AARS2 RARS2 mutations), our detected no pattern common all patients. Stroke-like lesions SARS2 FARS2 variants. We also report early onset cerebellar atrophy calcifications mutations, white matter involvement absent thalami EARS2 mutations. Finally, findings show normal results do not exclude presence mutations: 5 images carriers IARS2, YARS2, Our extends spectrum suggests largely underdiagnosed.