Novel (ovario) leukodystrophy related to AARS2 mutations.

doi:10.1212/WNL.0000000000000497

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Article

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology - 10 Jun 2014

Dallabona Cristina, Diodato Daria, Kevelam Sietske H, Haack Tobias B, Wong Lee-Jun, Salomons Gajja S, Baruffini Enrico, Melchionda Laura, Mariotti Caterina, Strom Tim M, Meitinger Thomas, Prokisch Holger, Chapman Kim, Colley Alison, Rocha Helena, Ounap Katrin, Schiffmann Raphael, Salsano Ettore, Savoiardo Mario, Hamilton Eline M, Abbink Truus E M, Wolf Nicole I, Ferrero Ileana, Lamperti Costanza, Zeviani Massimo, Vanderver Adeline, Ghezzi Daniele, van der Knaap Marjo S

Abstract excerpt

OBJECTIVES: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared by patients with this phenotype. METHODS: Independent next-generation exome-sequencing studies were performed in 2 unrelated patients with a leukoencephalopathy. MRI...

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Identifiers

PMID: 24808023
DOI: 10.1212/WNL.0000000000000497
PMCID: PMC4118500

Genes

AARS2

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.

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