Wilson’s disease (WD) is a progressive autosomal-recessive genetic disorder of copper metabolism, with principally hepatic, neurological and psychiatric manifestations. The neurological symptoms of WD develop in almost 40%–50% of patients, characterized by involuntary movements, speech disturbances, dysphagia, autonomic dysfunction as well as gait and balance disturbances. Earlier WD studies revealed cortical atrophy, white matter changes and roughly abnormalities in the extrapyramidal system nucleus. This study aim to quantitatively evaluate the exact changes of white matter in Wilson’s disease (WD) using an advanced diffusion MRI technique...

Thirty WD patients (M: 10, F: 20, mean age: 27.61±3.08 years) and 25 age- and sex- matched controls were enrolled in this study. All subjects underwent dMRI scan. Differences in NODDI parameters in the white matter were analyzed using tract-based spatial statistics (TBSS), including intracellular volume fraction (Vic), orientation dispersion index (ODI) and isotropic volume fraction (Viso). Multiple comparison correction was carried out by controlling false wise error (FWE) at 0.05.

The TBSS results showed that compared with the control group, Vic in the extensive white matter of WD patients was decreased (P<0.05), including bilateral corticospinal tract, corpus callosum, corona radiata, superior and inferior longitudinal fasciculus, superior and inferior fronto-occipital fasciculus, thalamic radiation, posterior cingulate gyrus, superior cerebellar peduncle, and left unciform fasciculus. Viso in the body and splenium of corpus callosum were increased (P<0.05). There were no significant differences of ODI in the white matter between WD patients and healthy controls (P>0.05).

Copper deposition in the brain of WD patients can not only involve the basal ganglia, but also extensively the white matter. NODDI can effectively evaluate abnormalities of microstructure of white matter in WD and thus, it is likely to be useful in detecting cerebral changes during copper deposition.

Y. Song, MD Department of Radiology, The First Affiliated Hospital of Xiamen University NO. 55, Zhenhai Road, Siming District, Xiamen city, Fujian, 361001, China Phone: +86 18850197029 E-mail: [email protected]

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