ArticleJournal of human genetics2017
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 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
- How RNA splicing decisions shape and break the developing heart.Nature cardiovascular research · 2026Article
- UterusFrontiers in neurology · 2023Article
- The Primary Microglial Leukodystrophies: A Review.International journal of molecular sciences · 2022Review
- Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Journal of assisted reproduction and genetics · 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
- Gene Mutation Classification through Text Evidence Facilitating Cancer Tumour Detection.Journal of healthcare engineering · 2021Article
- Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.Journal of neurodevelopmental disorders · 2019Review
- A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.Journal of human genetics · 2019Article
- A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.Brain and behavior · 2019Article
- Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.Journal of neurology, neurosurgery, and psychiatry · 2019Review
- AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.Molecular genetics & genomic medicine · 2019Article
- Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.Human molecular genetics · 2019Article
- Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.Frontiers in neurology · 2019Article
- Review
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.Journal of human genetics · 2018Article
- Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.Journal of clinical neurology (Seoul, Korea) · 2018Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
AARS2 gene (NM_020745.3) mutations result in two different phenotypic diseases: infantile mitochondrial cardiomyopathy and late-onset leukoencephalopathy. The patient's first symptoms appeared at the age of 18 years with behavioral changes and psychiatric problems. Some years later, extrapyramidal symptoms, cognitive impairment, nystagmus, dysarthria and pyramidal symptoms also developed. The brain magnetic resonance imaging (MRI) indicated extensive white matter abnormalities. The diagnosis of AARS2 gene mutations causing leukodystrophy was confirmed by genetic testing. Segregation analysis confirmed the compound heterozygous state of the patient. Histological examination of the biopsy did not prove specific pathological alterations. The clinical phenotype of our patient was compared with seven previously described patients suffering from leukoencephalopathy caused by AARS2 mutations. We have documented a new, nonsense AARS2 gene mutation (c.578T>G, p.Leu193*) and a known missense mutation (c.595C>T, p.Arg199Cys) associated with leukoencephalopathy in a male patient. Clinical features, imaging characteristics and genetic testing are presented, and histological data from an AARS2-related leukodystrophy patient are described for the first time.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.