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

The emerging neurological spectrum of AARS2-associated disorders.

Parkinsonism & related disorders - 1 Dec 2021

Parra Sahyli Perez, Heckers Stephan H, Wilcox William R, Mcknight Colin David, Jinnah H A

Abstract excerpt

BACKGROUND: The AARS2 gene encodes a mitochondrial alanyl-transfer RNA synthetase. Defects in this gene have been linked with autosomal recessive inheritance of a variety of different clinical phenotypes. CASE: A 13 year-old boy developed behavioral and psychiatric problems following a mild head injury. At age 21 he developed tremor, parkinsonism, and eye nystagmus. MRI revealed white matter changes consistent...

Read the complete abstract on PubMed

Topics

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

Share to Leukoencephalopathies
Share to Adolescent
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 34784527
DOI: 10.1016/j.parkreldis.2021.10.031
PMCID: PMC9100856

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

The emerging neurological spectrum of AARS2-associated disorders.PMID 34784527Read ↗

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

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 ↗

Expanded phenotype of AARS1-related white matter disease.Semantic proximity Read ↗

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.Semantic proximity Read ↗

Novel AARS2 gene mutation producing leukodystrophy: a case report.Semantic proximity Read ↗

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.Semantic proximity Read ↗

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.Semantic proximity Read ↗

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

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.Semantic proximity Read ↗

[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].Semantic proximity Read ↗

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Semantic proximity Read ↗

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