JIMD Reports, Volume 25

A. Lawrence, J. Saini, S. Sinha, S. Rao, M. Naggappa, P. S. Bindu, A. B. Taly, Lawrence, A., Saini, J., Sinha, S., Rao, S., Naggappa, M., Bindu, P. S., Taly, A. B.

This study was undertaken to analyse serially the effects of decoppering therapy on the clinical features, disability and MRI brain including DTI metrics in patients with Wilson's disease. Thirty-five patients with clinically and serologically confirmed neuropsychiatric form of Wilson's disease (WD) on decoppering therapy were followed for a minimum duration of 1 year with serial assessment of their clinical features, disability status and serial MR imaging of the brain including DTI. The cohort included 18 treatment-naïve patients and 17 patients already on decoppering therapy (M/F = 2.18:1). The mean age at which they underwent baseline assessment for this study was 18.6 ± 7.6 years, and follow-up assessment was done after a mean duration of 23.5 ± 8.8 months (range, 12 to 45 months). Along with the overall clinical improvement noted at follow-up, the disability assessed using Chu staging and MSEADL showed significant reduction in the number of patients with severe disability and the mean NSS reducing from 9.74 to 6.37 (p = 0.002). The mean MRI scores showed significantly reduced disease burden from a baseline score of 5.9 (±4.2) to 4.9 (±4.7) in follow-up scans (p < 0.05). Voxel-wise comparison of serial DTI metrics on TBSS (tract-based spatial statistics) analysis showed that the entire cohort had significant (p < 0.05) improvement in all the four parameters (MD, FA, DA and RD) indicated by a decrease in MD, DA and RD values and increase in FA values. Comparison of whole-brain white matter DTI measures between pre- and posttreatment did not show any significant difference (p < 0.05). Patients with Wilson's disease on decoppering therapy showed clinical improvement accompanied with improvement in DTI metrics. Quantitative DTI metrics may be used as surrogate markers of clinical status following initiation of medical therapy in Wilson's disease.