ArticleWorld journal of pediatrics : WJP2017
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.
Article in World journal of pediatrics : WJP, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.
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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
8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 12 citations in OpenAlex.
- Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2025Pooled it
- Pooled it
- Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.Cerebellum (London, England) · 2022Trial
- Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.Cerebellum (London, England) · 2025Review
- Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.Frontiers in genetics · 2024Article
- Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With NovelFrontiers in pediatrics · 2022Article
- MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration.Current opinion in neurology · 2020Review
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics · 2020Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAtaxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients.
methodsMedical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively.
resultsForty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated. The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.61±4.11 months, respectively. Neurological abnormalities were progressive truncal ataxia, nystagmus, dysarthria, oculomotor apraxia and choreoathetosis. Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years. Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years. Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients. Abnormal immunological parameters were determined in 51/91 patients: immunoglobulin (Ig)A deficiency (n=38), lymphopenia (n=30), IgG (n=15) and IgG
conclusionsAT is a long lasting disease with multisystem involvement necessitating multidisciplinary follow up, as described in our cohort. Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.
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