ArticleMolecular genetics & genomic medicine2019
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature.Journal of neurology · 2026Pooled it
- Advances in Research onGenes · 2026Review
- Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders.FEBS letters · 2026Review
- Article
- Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.Human molecular genetics · 2024Article
- AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer.Cancer medicine · 2023Article
- UterusFrontiers in neurology · 2023Article
- Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.Genes · 2022Review
- Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.Irish journal of medical science · 2022Review
- Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.BMC neurology · 2022Article
- The Primary Microglial Leukodystrophies: A Review.International journal of molecular sciences · 2022Review
- Aminoacyl-tRNA synthetases in human health and disease.Frontiers in physiology · 2022Review
- Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy.Tremor and other hyperkinetic movements (New York, N.Y.) · 2022Article
- Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease.PloS one · 2022Article
- The emerging neurological spectrum of AARS2-associated disorders.Parkinsonism & related disorders · 2021Review
- Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.International journal of molecular sciences · 2021Review
- Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.Frontiers in neurology · 2021Review
- Late-onset leukoencephalopathy in a patient with recessiveNeurology. Genetics · 2020Article
- Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.Molecular biology reports · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2,OMIM:612035) have been linked to leukoencephalopathy recently. Till now, there have been 19 cases reported so far. However, the clinical and genetic characteristics of this disease are not fully understood. We reported an adult-onset male leukoencephalopathy patient related to novel AARS2 gene mutations and reviewed all previous cases regarding the clinical and genetic features of AARS2 leukoencephalopathy.
methodsThe spectrum of clinical symptoms and the genetic analysis of the presented patient were identified and investigated. Besides this case, we assessed previously reported cases with AARS2 gene mutations.
resultsHere, we present a 30-year-old man with progressive motor deficits in the right lower limb and severe cerebellar ataxia for one year. MRI revealed extensive white matter lesions in periventricular regions and along the corticospinal tract. Genetic analysis revealed two new heterogeneous missense mutations in AARS2: c.179C>A and c.1703_1704del. We described the ragged red fiber (RRF) for the first time, suggesting that AARS2-related leukoencephalopathy be a new variant of mitochondrial encephalomyopathy. Gradual improvement in motor function was observed with intravenous coenzyme complex treatment. We also summarized our case and all previously reported cases to provide an overview of AARS2-related late-onset leukoencephalopathy. Then, we compared clinical and neuroimaging features of AARS2-related leukoencephalopathy with three other frequently diagnosed types of adult-onset leukoencephalopathy to provide insight into diagnostic strategies.
conclusionThe characteristic MRI abnormalities and clinical symptoms described here may help to distinguish AARS2-related leukoencephalopathy from other adult-onset leukoencephalopathies. The combination of encephalopathy and myopathy strongly suggest that AARS2-related leukoencephalopathy is a new variant of mitochondrial encephalomyopathy. The response to coenzyme complex will shed light on future therapy investigation.
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