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Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging
Author(s) -
Davies Elin Haf,
Seunarine Kiran K.,
Banks Tina,
Clark Chris A.,
Vellodi Ashok
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9288-6
Subject(s) - diffusion mri , white matter , fractional anisotropy , medicine , pathology , magnetic resonance imaging , nuclear medicine , radiology
Objective Biomarkers 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. Design DTI 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. Setting The study was performed at Great Ormond Street Children's Hospital NHS Trust Patients Four NGD and three Type I Gaucher paediatric patients were recruited Results The 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. Conclusions This 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.