SynthesisPloS one2022
The natural history of ataxia-telangiectasia (A-T): A systematic review.
Synthesis in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Systematic review of hematopoietic stem cell transplantation in patients with ataxia telangiectasia: a case report and an individual patient-level analysis.Frontiers in immunology · 2026Pooled it
- Neurological disease progression in adults with ataxia-telangiectasia: a longitudinal study.Brain : a journal of neurology · 2026Article
- Spectrum of Hereditary Ataxia in Omani Children.Journal of clinical medicine · 2026Article
- Proteomics in Ataxia Telangiectasia Fibroblasts Revealed Disease Hallmarks Recovered by ATM Variants.International journal of molecular sciences · 2026Article
- Ophthalmic and Oculomotor Characteristics in Ataxia-Telangiectasia: A Clinical Cohort Study using Video-Oculography.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2026Article
- Transcriptional Profiling Shows Dampening of Interferon Gene Signatures by NADInternational journal of molecular sciences · 2026Article
- Ophthalmic screening in phakomatoses.Frontiers in cell and developmental biology · 2026Article
- Harnessing pro-inflammatory and immunopathologic immune responses in urinary tract infections for vaccine development: it's all about a balance.Frontiers in immunology · 2026Review
- The multifaceted role of ATM protein in neural stem/progenitor cell biology and neurogenesis: beyond DNA damage response.Frontiers in pharmacology · 2026Review
- Walking Capacity in Children With Ataxia Telangiectasia From the Global Ataxia Telangiectasia Family Data Platform.Annals of the Child Neurology Society · 2025Article
- Anaesthesia for children with DNA repair disorders.BJA education · 2025Article
- MRI and Biomarkers in Early Detection of Pulmonary Changes in Ataxia-Telangiectasia.Medical science monitor : international medical journal of experimental and clinical research · 2025Article
- My A-T pack: a qualitative study of the utility, acceptability, design, and content of a family-designed and owned information pack relevant to the lives of children and young people living with ataxia telangiectasia.Orphanet journal of rare diseases · 2025Article
- Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score.BMC medical research methodology · 2025Article
- Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory study.Orphanet journal of rare diseases · 2025Article
- Personalized MRI-based characterization of subcortical anomalies in Ataxia-Telangiectasia using deep-learning.PloS one · 2025Article
- Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Pioglitazone as a Possible Treatment forBiomolecules · 2024Review
- Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome.Indian journal of pediatrics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAtaxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition.
objectivesUnderstand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. SEARCH
methods107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 -present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. SELECTION CRITERIA: All human studies that report any aspect of A-T. DATA COLLECTION AND ANALYSIS: Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. MAIN
results1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months).
conclusionsThis review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.
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What OpenQuestion holds
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.