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

AARS2-Related Leukodystrophy: a Case Report and Literature Review.

Cerebellum (London, England) - 1 Feb 2023

Zhang Xiao, Li Jie, Zhang Yanyan, Gao Meina, Peng Tao, Tian Tian

Abstract excerpt

Mutations in the alanyl-transfer RNA synthase 2 (AARS2) represent a heterogenous group of autosomal recessive leukodystrophy characterized by cognitive decline, ataxia, spasticity, and Parkinsonism. AARS2-related leukodystrophy (AARS2-L) is extremely rare. To date, only 45 genetically confirmed cases, explaining the frequent diagnostic delay. Here, we report a 21-year-old male presented with unsteady gait and...

Read the complete abstract on PubMed

Topics

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

Share to Delayed Diagnosis
Share to Demyelinating Diseases
Share to Leukoencephalopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Mutation, Missense

Share to Neurodegenerative Diseases

Share to Young Adult

Source

Identifiers

PMID: 35084689
DOI: 10.1007/s12311-022-01369-5

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

AARS2-Related Leukodystrophy: a Case Report and Literature Review.PMID 35084689Read ↗

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

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

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

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

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

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

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

Pearls & Oy-sters: AARS2 Leukodystrophy-Tremor and Tribulations.Semantic proximity Read ↗

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.Semantic proximity Read ↗

Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSemantic proximity Read ↗

Clinical and genetic characterization of leukoencephalopathies in adults.Semantic proximity Read ↗

B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 geneSemantic proximity Read ↗

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