Trial reportPloS one2011
The saccadic and neurological deficits in type 3 Gaucher disease.
Trial report in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001289 (Clinical and Biochemical Effects of Macrophage-Targeted Glucocerebrosidase on Neurological Involvement in Neuronopathic Gaucher's Disease), which is not on this map. Cited by 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Clinical and Biochemical Effects of Macrophage-Targeted Glucocerebrosidase on Neurological Involvement in Neuronopathic Gaucher's Disease
Who cites it
35 citing papers in PubMed, 66 citations in OpenAlex.
- 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
- Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients - ten years of experience in a single center.Acta epileptologica · 2024Article
- A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment.Acta neurologica Belgica · 2024Review
- Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.Brain : a journal of neurology · 2023Article
- Newborn screening for Gaucher disease in Japan.Molecular genetics and metabolism reports · 2022Article
- Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.International journal of molecular sciences · 2022Review
- Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021Review
- Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.Orphanet journal of rare diseases · 2020Article
- EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.Molecular genetics and metabolism · 2020Article
- Oculomotor Fatigue and Neuropsychological Assessments mirror Multiple Sclerosis Fatigue.Journal of eye movement research · 2020Article
- Article
- 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
- Glucocerebrosidase and its relevance to Parkinson disease.Molecular neurodegeneration · 2019Review
- An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders.Orphanet journal of rare diseases · 2019Article
- Eye movement abnormalities in movement disorders.Clinical parkinsonism & related disorders · 2019Review
- Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.Iranian journal of child neurology · 2019Review
- Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.Movement disorders : official journal of the Movement Disorder Society · 2018Review
- Recent advances in the diagnosis and management of Gaucher disease.Expert review of endocrinology & metabolism · 2018Article
- Central Lesions With Selective Semicircular Canal Involvement Mimicking Bilateral Vestibulopathy.Frontiers in neurology · 2018Review
- Previously unrecognized behavioral phenotype in Gaucher disease type 3.Neurology. Genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
unlabelledOur objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials.
trial registrationClinicalTrials.gov NCT00001289.
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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.