ArticleBMC neurology2020
Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series.
Article in BMC neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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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Who cites it
3 citing papers in PubMed.
- Revisiting 'idiopathic' spinal cord herniation: Evidence for an acquired pathogenesis from spinal anterior dural dissection.Neurosurgical review · 2026Article
- De Novo Formation of Idiopathic Spinal Cord Herniation.AJNR. American journal of neuroradiology · 2024Article
- Expanding the clinical phenotype ofCold Spring Harbor molecular case studies · 2022Article
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Authors and funding
4 authors.
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Abstract
backgroundSpinal dysraphism with a hamartomatous growth (appendix) of the spinal cord is better known as herniated spinal cord. There are many arguments in favour of considering it a developmental defect. From this point of view, it is a type of neural tube disorder. Neural tube disorders can be caused by multiple factors, including a genetic factor. A common genetic defect in patients with a spinal dysraphism with a hamartomatous growth of the spinal cord is sought for. CASE PRESENTATION: In two patients with a symptomatic lesion and referred to an academic hospital a genetic analysis was performed after informed consent. Whole-exome analysis was performed. : Whole-exome analysis did not result in identification of a clinically relevant genetic variant.
conclusionsThis the first study to investigate the genetic contribution to spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord. We could not establish a genetic cause for this entity. This conclusion cannot be definitive due to the small sample size. However, the incidental occurrence, the lack of reports of inheritance of this disorder and the absence of contribution to syndromal disorders favours a defect of normal development of the spinal cord.
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