ArticleCerebellum (London, England)2009
Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.
Article in Cerebellum (London, England), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Pooled it
- Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.Frontiers in immunology · 2021Pooled it
- Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.Frontiers in pediatrics · 2023Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Movement Disorders in Genetic Pediatric Ataxias.Movement disorders clinical practice · 2020Review
- Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.Oman medical journal · 2020Article
- Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.Annals of neurology · 2019Article
- Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Neurogenetics · 2017Article
- More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.Tremor and other hyperkinetic movements (New York, N.Y.) · 2016Review
- Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.Journal of the neurological sciences · 2015Review
- Clinical variability in ataxia-telangiectasia.Journal of neurology · 2015Article
- Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.Neurology · 2012Article
- Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.British journal of cancer · 2012Article
- Secondary dystonia-clinical clues and syndromic associations.Journal of movement disorders · 2009Review
- Oromandibular Dystonia - A Systematic Review.Annals of Indian Academy of NeurologyArticle
- Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.Movement disorders clinical practiceReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading problem was that of dystonia with onset at age 15, in the absence of gross gait imbalance or ocular motor apraxia. Dystonia was generalized and with prominent oromandibular involvement. Unusually, a leash of telangiectasia was present on the posterior pharyngeal wall, while other features frequently associated with A-T were absent.
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Identifiers
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.