ReviewMovement disorders clinical practice2021
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel
Review in Movement disorders clinical practice, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.Annals of neurology · 2025Article
- DARS2 Promotes Bladder Cancer Progression by Enhancing PINK1-Mediated Mitophagy.International journal of biological sciences · 2025Article
- MicroRNA (let-7b-5p)-targeted DARS2 regulates lung adenocarcinoma growth by PI3K/AKT signaling pathway.Oncology research · 2024Article
- The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.Genes · 2022Review
- 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
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive spastic gait, cerebellar symptoms, and posterior cord dysfunction. CASES: The proband had gait disturbance since age 56, while her younger brother had the gait problem since his 20s and needed cane-assistance at age 45. Both cases showed typical demyelinating features of LBSL on the magnetic resonance imaging (MRI) involving the periventricular white matter, brainstem, cerebellum and spinal cord. Sequencing of both cases showed compound heterozygous mutations: c.228-16C>A and c.508C>T in LITERATURE REVIEW: Literatures from PubMed were reviewed. Five families showed intra-familial heterogeneity on age at onset or clinical severity.
conclusionWe identified a family of LBSL with compound heterozygous mutations, and c.508C>T at the exon 6 is a novel one. Clinical heterogeneity was observed in the family and other literatures. Further research for underlying mechanism is required.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.