ArticleBMC neurology2018
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
Article in BMC neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Role ofTranslational lung cancer research · 2024Article
- Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.European journal of human genetics : EJHG · 2024Article
- High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.Journal of clinical laboratory analysis · 2022Article
- Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.Molecular genetics and metabolism · 2022Article
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A NovelMovement disorders clinical practice · 2021Review
- Compound HeterozygousMovement disorders clinical practice · 2021Article
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Leigh Syndrome Due toGenes · 2020Article
- The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.Frontiers in cellular neuroscience · 2020Review
- Novel Homozygous Missense Mutation in theFrontiers in neurology · 2020Article
- Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.JIMD reports · 2020Article
- Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.Journal of neurodevelopmental disorders · 2019Review
- The odyssey of diagnosing genetic disorders in evolving health services.Sudanese journal of paediatrics · 2019Article
- Vocal Cord Paresis and Neuropathic Pain in Infantile Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Case Report.Case reports in neurologyArticle
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 4 countries.
Funding
Abstract
backgroundLeukoencephalopathy 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. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far. CASE PRESENTATION: Two siblings, aged 18 years and 15 years, from a consanguineous family presented with pyramidal signs and symptoms since infancy and developmental delay. Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2. Sanger sequencing confirmed the presence of the mutations and their segregation in trans in both patients and in their elder sister (aged 20 years), who showed only brisk reflexes and mild lower limb spasticity. Surprisingly, in contrast to her subtle clinical presentation, the elder sister had abnormal MRI features and serum lactate levels comparable to her ill sisters.
conclusionThis report illustrates intra-familial phenotypic variation in LBSL and provides an example of a marked dissociation between the clinical and radiological phenotypes of the disease. This may have implications for the detection of mutation carriers in LBSL.
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