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Article

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

Journal of human genetics - 1 Jul 2018

Dong Qing, Long Ling, Chang Yan-Yu, Lin Yan-Jun, Liu Mei, Lu Zheng-Qi

Abstract excerpt

Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the...

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Source

Identifiers

PMID: 29666464
DOI: 10.1038/s10038-018-0446-7

Genes

AARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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