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

Molecular and Cellular Probes
Cornelia KöhlerAngela Abicht

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.

References

Jan 31, 2003·Annals of Neurology·Marjo S van der KnaapPetra J W Pouwels
Sep 7, 2004·Expert Review of Molecular Diagnostics·Madhav Thambisetty, Nancy J Newman
Sep 15, 2010·Journal of Neuropathology and Experimental Neurology·Marianna BugianiMarjo S van der Knaap
Jul 14, 2011·Journal of Medical Genetics·Matthis SynofzikLudger Schöls
Aug 6, 2011·Clinical Genetics·N MiyakeN Matsumoto
Apr 12, 2012·Brain : a Journal of Neurology·Marjan E SteenwegMassimo Zeviani
Oct 16, 2012·Neuropediatrics·M E SteenwegM S van der Knaap
Dec 12, 2012·The Biochemical Journal·Laura van BergeGert C Scheper
May 27, 2014·Brain : a Journal of Neurology·Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza
May 27, 2014·Brain : a Journal of Neurology·Marjo S van der KnaapLaura van Berge

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Citations

May 22, 2016·Journal of the Neurological Sciences·Sevim ŞahinGülden Yorgancıoğlu Budak
May 24, 2017·RNA Biology·Jana Ognjenović, Miljan Simonović
Jun 22, 2017·Human Molecular Genetics·Rebecca Meyer-Schuman, Anthony Antonellis
Jul 7, 2018·The Neuroradiology Journal·Josef Finsterer, Sinda Zarrouk-Mahjoub
Oct 21, 2017·Journal of Experimental & Clinical Cancer Research : CR·Xian QinQuan-Yan Liu
Dec 17, 2019·Journal of Neurodevelopmental Disorders·Amena Smith FineAli Fatemi
Feb 13, 2021·Frontiers in Cellular Neuroscience·Annapoorani MuthiahDominik Fröhlich

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