ArticleAnnals of neurology2019
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Article in Annals of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 6 of them syntheses 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.
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
54 citing papers in PubMed, 6 syntheses or guidelines pooled it, 91 citations in OpenAlex.
- Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia-Telangiectasia: A Systematic Review.European journal of neurology · 2026Pooled it
- Biomarkers in Ataxia-Telangiectasia: a Systematic Review.Journal of neurology · 2025Pooled it
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Pooled it
- Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.Frontiers in immunology · 2021Pooled it
- Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.Cerebellum (London, England) · 2022Trial
- Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.Journal of clinical immunology · 2021Trial
- Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.Frontiers in immunology · 2019Trial
- Neurological disease progression in adults with ataxia-telangiectasia: a longitudinal study.Brain : a journal of neurology · 2026Article
- A rare ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosis.Neurogenetics · 2026Article
- Plasma Copper and Zinc Levels in Ataxia-Telangiectasia.International journal of molecular sciences · 2026Article
- N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives.Cerebellum (London, England) · 2026Review
- Compound Heterozygous ATM Variants Cause Adolescent-Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.Genetics research · 2026Article
- Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.BMC medical genomics · 2025Article
- ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia.Cell reports. Medicine · 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
- Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.Genes · 2025Article
- Myoclonus dystonia as a predominant manifestation in ataxia telangiectasia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond.Journal of clinical immunology · 2025Article
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 2 countries.
Funding
Abstract
objectiveVariant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlations.
methodsCross-sectional data were collected retrospectively. Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activity.
resultsThe study includes 57 individuals. Mean age at assessment was 37.5 years. Most had their first symptoms by age 10 (81%). There was a diagnostic delay of more than 10 years in 68% and more than 20 years in one third of probands. Disease severity was mild in one third of patients, and 43% were still ambulant 20 years after disease onset. Only one third had predominant ataxia, and 18% had a pure extrapyramidal presentation. Individuals with extrapyramidal presentations had milder neurological disease severity. There were no significant respiratory or immunological complications, but 25% of individuals had a history of malignancy. Missense mutations were associated with milder neurological disease severity, but with a higher risk of malignancy, compared to leaky splice site mutations.
interpretationIndividuals with variant ataxia-telangiectasia require malignancy surveillance and tailored management. However, our data suggest the condition may sometimes be mis- or underdiagnosed because of atypical features, including exclusive extrapyramidal symptoms, normal eye movements, and normal alpha-fetoprotein levels in some individuals. Missense mutations are associated with milder neurological presentations, but a particularly high malignancy risk, and it is important for clinicians to be aware of these phenotypes. ANN NEUROL 2019;85:170-180.
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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.