ArticleJournal of neurology2020
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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.
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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.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Pooled it
- Plasma Copper and Zinc Levels in Ataxia-Telangiectasia.International journal of molecular sciences · 2026Article
- Skin cancer risk in hereditary mixed cancer syndromes.Hereditary cancer in clinical practice · 2025Review
- Computational modeling of ATM signaling: a predictive framework for drug repurposing in ataxia-telangiectasia.NPJ systems biology and applications · 2025Article
- Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report.Hong Kong physiotherapy journal : official publication of the Hong Kong Physiotherapy Association Limited = Wu li chih liao · 2025Article
- Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.Cerebellum (London, England) · 2025Article
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- Neurocutaneous Diseases: Diagnosis, Management, and Treatment.Journal of clinical medicine · 2024Review
- Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients.Journal of clinical immunology · 2024Article
- Review
- Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.Cancer medicine · 2023Article
- ATM c.7570G>C is a high-risk allele for breast cancer.International journal of cancer · 2023Article
- DNA Damage Response-Associated Cell Cycle Re-Entry and Neuronal Senescence in Brain Aging and Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2023Review
- Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.Current allergy and asthma reports · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePatients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture.
methodsData from Dutch patients with classic A-T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A-T patients who survived beyond the age of 30 years.
resultsIn the Dutch cohort, seven classic A-T patients survived beyond 30 years of age. Fourteen additional patients were retrieved by the literature search. Common problems in older patients with classic A-T were linked to ageing. Most patients had pulmonary, endocrine, cardiovascular, and gastro-intestinal problems. All patients had a tetraparesis with contractures. This led to immobilization and frequent hospital admissions. Most patients expressed the wish to no longer undergo intensive medical treatments, and waived follow-up programs.
conclusionsPaucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30 years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.
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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.