Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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