ArticleFrontiers in neurology2017
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.
Article in Frontiers in neurology, 2017. 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.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- 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
- Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.Cerebellum (London, England) · 2024Pooled it
- Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene-Based Classification and a Reappraisal of the Oculomotor Phenotype.Movement disorders clinical practice · 2026Article
- A digital measure of eye movements during reading sensitively captures oculomotor and speech dysfunction, early changes, and disease progression in ataxias.medRxiv : the preprint server for health sciences · 2025Article
- Eye movement abnormalities in normal pressure hydrocephalus: a video-oculographic study.Journal of neurology · 2025Article
- Vision toolkit part 2. features and metrics for assessing oculomotor signal: a review.Frontiers in physiology · 2025Review
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Noradrenergic modulation of saccades in Parkinson's disease.Brain communications · 2024Article
- Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.Frontiers in integrative neuroscience · 2023Article
- Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.Frontiers in neurology · 2023Article
- Detection of Oculomotor Dysmetria From Mobile Phone Video of the Horizontal Saccades Task Using Signal Processing and Machine Learning Approaches.IEEE access : practical innovations, open solutions · 2022Article
- Eye movement especially vertical oculomotor impairment as an aid to assess Parkinson's disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- The saccade main sequence revised: A fast and repeatable tool for oculomotor analysis.Behavior research methods · 2021Article
- Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders.Movement disorders clinical practice · 2021Review
- Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia.Cerebellum (London, England) · 2019Review
- A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.Journal of genetic counseling · 2019Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate cerebellar dysfunctions and quantitatively characterize specific oculomotor changes in ataxia-telangiectasia-like disorder (ATLD), a rare autosomal recessive disease caused by mutations in the
methodsSaccade dynamics, metrics, and visual fixation deficits were investigated in two Italian adult siblings with genetically confirmed ATLD. Visually guided saccades were compared with those of 40 healthy subjects. Steady fixation was tested in primary and eccentric positions. Quantitative characterization of saccade parameters, saccadic intrusions (SI), and nystagmus was performed.
resultsPatients showed abnormally hypermetric and fast horizontal saccades to the left and greater inaccuracy than healthy subjects in all saccadic eye movements. Eye movement abnormalities included slow eye movements that preceded the initial saccade. Horizontal and vertical spontaneous jerk nystagmus, gaze-evoked, and rebound nystagmus were evident. Fixation was interrupted by large square-wave jerk SI and macrosaccadic oscillations.
conclusionSlow eye movements accompanying saccades, SI, and cerebellar nystagmus are frequently seen in AT patients, additionally our ATLD patients showed the presence of fast and hypermetric saccades suggesting damage of granule cell-parallel fiber-Purkinje cell synapses of the cerebellar vermis. A dual pathogenetic mechanism involving neurodevelopmental and neurodegenerative changes is hypothesized to explain the peculiar phenotype of this disease.
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