ArticleAJNR. American journal of neuroradiology2014
Cerebral abnormalities in adults with ataxia-telangiectasia.
Article in AJNR. American journal of neuroradiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 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.
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Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- 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
- Pooled it
- Ataxia-Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review.Journal of clinical medicine · 2026Review
- 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
- Pioglitazone as a Possible Treatment forBiomolecules · 2024Review
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.Cerebellum (London, England) · 2024Review
- Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.Cerebellum (London, England) · 2024Review
- Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.BMC neurology · 2022Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders.Movement disorders clinical practice · 2021Review
- Classic ataxia-telangiectasia: the phenotype of long-term survivors.Journal of neurology · 2020Article
- Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.Annals of neurology · 2019Article
- Cerebellum and neurodegenerative diseases: Beyond conventional magnetic resonance imaging.World journal of radiology · 2017Review
- Ataxia telangiectasia: a review.Orphanet journal of rare diseases · 2016Review
- Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study.NeuroImage. Clinical · 2015Article
- DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.Neurogenetics · 2014Review
- Vascular neurocutaneous disorders: neurospinal and craniofacial imaging findings.Japanese journal of radiology · 2014Review
- Radiological imaging in ataxia telangiectasia: a review.Cerebellum (London, England) · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Ataxia-telangiectasia, an autosomal recessive disorder caused by defect of the ataxia-telangiectasia mutated gene, is characterized by progressive neurologic impairment with cerebellar atrophy, ocular and cutaneous telangiectasia, immunodeficiency, heightened sensitivity to ionizing radiation and susceptibility to developing lymphoreticular malignancy. Supratentorial brain abnormalities have been reported only rarely. In this study, brain MRI was performed in 10 adults with ataxia-telangiectasia having stable neurologic impairment. Intracerebral telangiectasia with multiple punctate hemosiderin deposits were identified in 60% of subjects. These lesions were apparently asymptomatic. They are similar in appearance to radiation-induced telangiectasia and to cryptogenic vascular malformations. Also noted, in the 2 oldest subjects, was extensive white matter T2 hyperintensity, and in 1 of these a space-occupying fluid collection consistent with transudative capillary leak and edema as evidenced by reduced levels of metabolites on MR spectroscopic imaging. Asymptomatic supratentorial vascular abnormalities appear to be common in adults with ataxia-telangiectasia.
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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.