ArticleFrontiers in neurology2023
Case report: JAK inhibition as promising treatment option of fatal RVCLS due to
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed, 3 citations in OpenAlex.
- One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy.American journal of ophthalmology case reports · 2025Article
- Exploring targeted therapy in retinal vasculopathy with cerebral leukoencephalopathy: a case report and review of literature.Frontiers in immunology · 2025Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Autosomal dominant mutations in the C-terminal part of Methods: We collected clinical data of an extended family with RVCLS ( Results: We report clinical details from 29 family members with 17 of them showing RVCLS symptoms. Treatment of the index patient with ruxolitinib for >4 years was well-tolerated and clinically stabilized RVCLS activity. Moreover, we noticed normalization of initially elevated Discussion: We provide evidence that JAK inhibition as RVCLS treatment appears safe and could slow clinical worsening in symptomatic adults. These results encourage further use of JAK inhibitors in affected individuals together with monitoring of
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