Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

2007 ◽  
Vol 39 (4) ◽  
pp. 534-539 ◽  
Author(s):  
Gert C Scheper ◽  
Thom van der Klok ◽  
Rob J van Andel ◽  
Carola G M van Berkel ◽  
Marie Sissler ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Trna Synthetase ◽  
Synthetase Deficiency ◽  
Spinal Cord Involvement

scholarly journals Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene

2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-227755 ◽  
Author(s):  
Anudeep Yelam ◽  
Elanagan Nagarajan ◽  
Miguel Chuquilin ◽  
Raghav Govindarajan
Keyword(s):  
Spinal Cord ◽  
White Matter ◽  
Brain Stem ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Dorsal Column ◽  
Clinical Findings ◽  
Cerebral White Matter ◽  
Spinal Cord Involvement

Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a mutation in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. MRI shows distinctive abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. Here, we present a case of LBSL, with a novel c.1192-2A>G mutation.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA

2012 ◽  
Vol 441 (3) ◽  
pp. 955-962 ◽  
Author(s):  
Laura van Berge ◽  
Stephanie Dooves ◽  
Carola G.M. van Berkel ◽  
Emiel Polder ◽  
Marjo S. van der Knaap ◽  
...  
Keyword(s):  
Spinal Cord ◽  
White Matter ◽  
Brain Stem ◽  
Cell Lines ◽  
Trna Synthetase ◽  
Neural Cell ◽  
Cell Type ◽  
White Matter Tracts ◽  
Spinal Cord Involvement ◽  
Neural Cell Lines

LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imaging shows characteristic abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. LBSL is caused by mutations in the gene DARS2, which encodes mtAspRS (mitochondrial aspartyl-tRNA synthetase). The selective involvement of specific white matter tracts in LBSL is striking since this protein is ubiquitously expressed. Almost all LBSL patients have one mutation in intron 2 of DARS2, affecting the splicing of the third exon. Using a splicing reporter construct, we find cell-type-specific differences in the sensitivity to these mutations: the mutations have a larger effect on exon 3 exclusion in neural cell lines, especially neuronal cell lines, than in non-neural cell lines. Furthermore, correct inclusion of exon 3 in the normal mtAspRS mRNA occurs less efficiently in neural cells than in other cell types, and this effect is again most pronounced in neuronal cells. The combined result of these two effects may explain the selective vulnerability of specific white matter tracts in LBSL patients.

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)

2020 ◽  
Vol 25 (5) ◽  
pp. 144-147
Author(s):  
Isil Yazici Gencdal ◽  
Alp Dincer ◽  
Oguzhan Obuz ◽  
Zuhal Yapici
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Study of the phenotype and genotype and their correlation

2013 ◽  
Vol 81 (S1) ◽  
pp. 47-47
Author(s):  
Eline M. Hamilton ◽  
Laura van Berge ◽  
Marjan E. Steenweg ◽  
Gert C. Scheper ◽  
Truus E. Abbink ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation: High Outcome Variation between Two Siblings

2014 ◽  
Vol 45 (03) ◽  
pp. 188-191 ◽  
Author(s):  
Elzbieta Jurkiewicz ◽  
Ekaterina Zakharova ◽  
Barbara Bobek-Billewicz ◽  
Anna Tylki-Szymanska
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

2011 ◽  
Vol 33 (9) ◽  
pp. 713-717 ◽  
Author(s):  
Hanna Mierzewska ◽  
Marjo S. van der Knaap ◽  
Gert C. Scheper ◽  
Monika Bekiesinska-Figatowska ◽  
Elzbieta Szczepanik ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement ◽  
Polish Patient

Leukoencephalopathy with brain stem and spinal cord involvement and elevated white matter lactate (LBSL): Serial proton MRS and DTI of a child over a period of 6 years

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
S Dreha-Kulaczewski ◽  
P Huppke ◽  
K Brockmann ◽  
P Dechent ◽  
G Helms ◽  
...  
Keyword(s):  
Spinal Cord ◽  
White Matter ◽  
Brain Stem ◽  
Proton Mrs ◽  
Spinal Cord Involvement
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