Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
As mitochondrial ARSs are key components of the mitochondrial translation apparatus, we investigated the effects of DARS2 mutations on mitochondrial functions and mitochondrial morphology in an LBSL patient.
|
31671122 |
2019 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
We also report that novel mutations in mt-AspRS and mt-ArgRS genes from individuals with LBSL and PCH6, respectively, had no significant impact on the mitochondrial localizations of mt-AspRS and mt-ArgRS.
|
30006346 |
2018 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column.
|
30352563 |
2018 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
BEFREE |
In contrast, myelin-producing cells seem to be resistant to cell death induced by DARS2 depletion despite robust respiratory chain deficiency arguing that LBSL might originate from the primary neuronal and axonal defect.
|
28985337 |
2017 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and genetic characterization of leukoencephalopathies in adults.
|
28334938 |
2017 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and genetic characterization of leukoencephalopathies in adults.
|
28334938 |
2017 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
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.
|
26327357 |
2015 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.
|
24407472 |
2014 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase.
|
24566671 |
2014 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings.
|
24005482 |
2014 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
|
23652419 |
2013 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis.
|
22843165 |
2012 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
More recently, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) has been reported to be caused by autosomal recessive mutations in a mitochondrial aspartyl-tRNA synthetase, DARS2 gene.
|
22422207 |
2012 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Early-onset LBSL: how severe does it get?
|
23065766 |
2012 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Patients with DARS2 mutations more often had involvement of structures typically affected in LBSL, including decussatio of the medial lemniscus, anterior spinocerebellar tracts, and superior and inferior cerebellar peduncles.
|
23065766 |
2012 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
All eight LBSL patients were compound heterozygotes for DARS2 mutations: all carried R76SfsX5 change, seven had M134_K165del, and one had C152F change.
|
19592391 |
2010 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
All eight LBSL patients were compound heterozygotes for DARS2 mutations: all carried R76SfsX5 change, seven had M134_K165del, and one had C152F change.
|
19592391 |
2010 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
|
17384640 |
2007 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
|
17384640 |
2007 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
|
17384640 |
2007 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
|
17384640 |
2007 |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|