ArticleCureus2025
Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by cerebellar ataxia and oculocutaneous telangiectasias, with increased malignancy risk from radiation-induced DNA double-strand breaks. Its multisystem involvement makes diagnosis challenging, and confirmation requires identifying biallelic pathogenic variants in the ATM gene. We report an eight-year-old boy with unsteady gait and bilateral ocular telangiectasia. He had no recurrent infections, and immunoglobulin (Ig) levels were normal, except for low IgA. Although serum alpha-fetoprotein was elevated and MRI demonstrated cerebellar atrophy, findings suggestive of A-T, definitive genetic testing for ATM mutations was not available.
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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.