ArticleJournal of inherited metabolic disease2011
Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging.
Article in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 30 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
- GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice.Molecular neurodegeneration · 2024Article
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.Communications biology · 2023Article
- Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial.Brain : a journal of neurology · 2023Article
- Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.Journal of inherited metabolic disease · 2020Article
- Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.Journal of child neurology · 2019Review
- Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study.Neuroradiology · 2019Article
- Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.Neuroradiology · 2018Article
- Article
- Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease.European radiology · 2013Article
- Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III.Skeletal radiology · 2013Article
- The cognitive profile of type 1 Gaucher disease patients.Journal of inherited metabolic disease · 2012Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveBiomarkers to monitor neurological dysfunction in Neuronopathic Gaucher disease (NGD) are lacking. Diffusion tensor imaging (DTI) is a technique which allows us to probe the microstructure of the white-matter of the brain, in-vivo. The aim of this study was to investigate the value of DTI to visualise and quantify white matter integrity in children with NGD and Type I Gaucher.
designDTI was performed and fractional anisotropy (FA), mean diffusivity (MD), axial (λ(axial)) diffusivity and radial (λ(radial)) diffusivity maps calculated. Tract-based spatial statistics (TBSS) was used to perform a voxel-wise statistical analysis of the main white matter structures compared to age-sex matched control groups.
settingThe study was performed at Great Ormond Street Children's Hospital NHS Trust PATIENTS: Four NGD and three Type I Gaucher paediatric patients were recruited
resultsThe findings suggest the presence of microstructural white matter changes in NGD patients primarily in the middle cerebellar peduncles compared to an age-sex matched control group. This finding is relevant to the clinical manifestation of ataxia seen in NGD. Diffuse non-specific changes were seen in the Type I patients, but without a focal point.
conclusionsThis study is the first to use DTI to examine the Gaucher brain. While the numbers studied are small, the results suggest that DTI may be an attractive surrogate marker of NGD, worthy of further exploration for use in clinical studies.
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