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Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

Lookup NU author(s): Professor Rita Horvath

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Abstract

Mutations in the DARS2 gene are known to cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a rare autosomal recessive neurological disorder. It was originally described as juvenile-onset slowly progressive ataxia and spasticity, but recent reports suggest a broader clinical spectrum. Most patients were found to carry compound heterozygous DARS2 mutations, and only very few patients with homozygous mutations have been described so far. We present here an 8-month-old boy carrying a homozygous missense mutation in DARS2 who clinically showed severe neurological deterioration after a respiratory tract infection, followed by an almost complete remission of symptoms. This report further extends the knowledge about the clinical and molecular genetic spectrum of LBSL. (C) 2015 Elsevier Ltd. All rights reserved.


Publication metadata

Author(s): Kohler C, Heyer C, Hoffjan S, Stemmler S, Lucke T, Thiels C, Kohlschutter A, Lobel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A

Publication type: Article

Publication status: Published

Journal: Molecular and Cellular Probes

Year: 2015

Volume: 29

Issue: 5

Pages: 319-322

Print publication date: 01/10/2015

Online publication date: 29/08/2015

Acceptance date: 30/06/2015

ISSN (print): 0890-8508

ISSN (electronic): 1096-1194

Publisher: Academic Press

URL: http://dx.doi.org/10.1016/j.mcp.2015.06.005

DOI: 10.1016/j.mcp.2015.06.005


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