Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.

BMC neurology - 8 Jun 2022

Fan Yan, Han Jinming, Yang Yanyan, Chen Tuanzhi

Abstract excerpt

BACKGROUND: Missense mutations in the mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene are clinically associated with infantile mitochondrial cardiomyopathy or adult-onset leukoencephalopathy with early ovarian failure. To date, approximately 40 cases have been reported related to AARS2 mutations, while its genetic and phenotypic spectrum remains to be defined. CASE PRESENTATION: We identified a 24-year-old...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Leukoencephalopathies
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 35676634
DOI: 10.1186/s12883-022-02720-3
PMCID: PMC9175470

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.PMID 35676634Read ↗

An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.Semantic proximity Read ↗

Novel (ovario) leukodystrophy related to AARS2 mutations.Semantic proximity Read ↗

AARS2-Related Leukodystrophy: a Case Report and Literature Review.Semantic proximity Read ↗

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.Semantic proximity Read ↗

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Semantic proximity Read ↗

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.Semantic proximity Read ↗

The emerging neurological spectrum of AARS2-associated disorders.Semantic proximity Read ↗

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Semantic proximity Read ↗

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.Semantic proximity Read ↗

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.Semantic proximity Read ↗

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.Semantic proximity Read ↗

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.