ArticleFrontiers in neurology2017
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.
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 15 papers.
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Who cites it
15 citing papers in PubMed.
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty.Clinical case reports · 2025Article
- Audiovestibular Findings in Gaucher Disease Types I and III: Evidence of Vestibular Involvement in GD1.Journal of inherited metabolic disease · 2025Article
- Bilateral vestibulopathy in Alexander disease type II- a case report.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.Neurogenetics · 2024Review
- Video-Oculography Assessment in Neurodegenerative Ataxias and Niemann Pick Type C.Noro psikiyatri arsivi · 2024Article
- Review
- In-depth phenotyping for clinical stratification of Gaucher disease.Orphanet journal of rare diseases · 2021Article
- A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.European journal of neurology · 2021Article
- Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.Orphanet journal of rare diseases · 2020Article
- The definition of neuronopathic Gaucher disease.Journal of inherited metabolic disease · 2020Article
- A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.Orphanet journal of rare diseases · 2019Article
- An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders.Orphanet journal of rare diseases · 2019Article
- What Is Behind Cerebellar Vertigo and Dizziness?Cerebellum (London, England) · 2019Article
- Central Lesions With Selective Semicircular Canal Involvement Mimicking Bilateral Vestibulopathy.Frontiers in neurology · 2018Review
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14 authors.
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No grant is acknowledged in the PubMed record.
Abstract
objectivesTo evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials.
methodsTwenty-six patients with GD3 were assessed for eligibility and 21 were able to perform at least one task. Horizontal and vertical reflexive saccades, smooth pursuit, gaze-holding, optokinetic nystagmus, and horizontal vestibulo-ocular reflex (VOR) were examined by video-oculography/video-head impulse test and compared concurrently with 33 healthy controls. The Scale for the Assessment and Rating of Ataxia (SARA), the modified Severity Scoring Tool (mSST), and Grooved Pegboard Test (GPT) were administered to assess overall neurological function. Eleven patients were also re-assessed after 1 year.
resultsNine out of 17 patients exhibited gaze-holding deficits. One patient had upbeat nystagmus. Three patients presented with bilateral abducens palsy in combination with central oculomotor disorders, suggesting a bilateral involvement of the abducens nucleus. Horizontal angular VOR gain was reduced in all patients (0.66 ± 0.37) compared with controls (1.1 ± 0.11,
interpretationThis study shows neuronal degeneration of the brainstem and cerebellum with combined involvement of both supranuclear and nuclear oculomotor structures and the vestibular system in GD3. We also identified oculomotor parameters that correlate with the neurological status and can be used as biomarkers in future clinical trials.
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