ArticleApplied & translational genomics2015
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.
Article in Applied & translational genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Identification and analyses of exonic and copy number variants in spastic paraplegia.Scientific reports · 2024Article
- Gut microbiome, T cell subsets, and cytokine analysis identify differential biomarkers in tuberculosis.Frontiers in immunology · 2024Article
- Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.BMC neurology · 2020Article
- Next-generation sequencing in neuromuscular diseases.Current opinion in neurology · 2016Review
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Authors and funding
7 authors.
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Abstract
Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.
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