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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.

Little is known about the neural mechanisms controlling head posture and why they fail in clinical syndromes like torticollis. It is well established, however, that the brain controls eye position by integrating eye velocity commands. By electrically stimulating and reversibly inactivating midbrain sites in the headfree (nonimmobilized) monkey, we found that the interstitial nucleus of Cajal functions as a neural integrator for head posture. We suggest that a bilateral imbalance in this structure, through either direct damage or inappropriate input, could be one of the mechanisms underlying torticollis.