Trial reportScientific reports2017
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
Trial report in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- Ataxia with oculomotor apraxia type 2: two pedigree studies and a comprehensive review.Journal of neurology · 2025Pooled it
- Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.Cerebellum (London, England) · 2025Pooled it
- Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2025Pooled it
- Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene-Based Classification and a Reappraisal of the Oculomotor Phenotype.Movement disorders clinical practice · 2026Article
- CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias.Cerebellum (London, England) · 2024Review
- Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation.The Journal of cell biology · 2024Article
- Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.Cerebellum (London, England) · 2024Article
- Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.Frontiers in genetics · 2024Article
- Eye Movement Disorders in Movement Disorders.Movement disorders clinical practice · 2022Review
- A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.Brain sciences · 2022Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- Late-onset ataxia plus syndromes: Extending the phenotype of senataxin-related disease.Neurology. Clinical practice · 2020Article
- Movement Disorders in Genetic Pediatric Ataxias.Movement disorders clinical practice · 2020Review
- NovelJournal of clinical medicine · 2020Article
- Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Review
- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.Journal of clinical neurology (Seoul, Korea) · 2018Article
- Early Onset Dementia in Ataxia Associated with Ocular Apraxia Type 1 (AOA1).Annals of Indian Academy of NeurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 µg/L), AOA2 (15-65 µg/L) and AT (>65 µg/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.
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