Structural and functional brain changes in hepatic and neurological Wilson disease
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ORIGINAL RESEARCH
Structural and functional brain changes in hepatic and neurological Wilson disease Sule Tinaz 1,2 & Jagriti Arora 3 & Keerthana Nalamada 1 & Ana Vives-Rodriguez 1 & Mine Sezgin 1,4 & Daphne Robakis 1,5 & Amar Patel 1 & R. Todd Constable 3 & Michael L. Schilsky 6 Accepted: 9 November 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Wilson disease (WD) can manifest with hepatic or neuropsychiatric symptoms. Our understanding of the in vivo brain changes in WD, particularly in the hepatic phenotype, is limited. Thirty subjects with WD and 30 age- and gender-matched controls participated. WD group underwent neuropsychiatric assessment. Unified WD Rating Scale neurological exam scores were used to determine neurological (WDN, score > 0) and hepatic-only (WDH, score 0) subgroups. All subjects underwent 3 Tesla anatomical and resting-state functional MRI. Diffusion tensor imaging (DTI) and susceptibility-weighted imaging (SWI) were performed only in the WD group. Volumetric, DTI, and functional connectivity analyses were performed to determine betweengroup differences. WDN and WDH groups were matched in demographic and psychiatric profiles. The entire WD group compared to controls showed significant thinning in the bilateral superior frontal cortex. The WDN group compared to control and WDH groups showed prominent structural brain changes including significant striatal and thalamic atrophy, more subcortical hypointense lesions on SWI, and diminished white matter integrity in the bilateral anterior corona radiata and corpus callosum. However, the WDH group also showed significant white matter volume loss compared to controls. The functional connectivity between the frontostriatal nodes was significantly reduced in the WDN group, whereas that of the hippocampus was significantly increased in the WDH group compared to controls. In summary, structural and functional brain changes were present even in neurologically non-manifesting WD patients in this cross-sectional study. Longitudinal brain MRI scans may be useful as biomarkers for prognostication and optimization of treatment strategies in WD. Keywords Wilson disease . Volumetric MRI . DWI . Resting-state fMRI . Functional connectivity
Introduction * Sule Tinaz [email protected] 1
Department of Neurology, Yale University School of Medicine, 15 York St, LCI Suite 710, New Haven, CT 06510, USA
2
Clinical Neurosciences Imaging Center, Yale University School of Medicine, New Haven, CT, USA
3
Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT, USA
4
Istanbul Faculty of Medicine, Department of Neurology, Istanbul University, Istanbul, Turkey
5
Department of Neurology, State University of New York Downstate College of Medicine, Brooklyn, NY, USA
6
Departments of Medicine and Surgery, Sections of Digestive Diseases and Transplant and Immunology, Yale University School of Medicine, New Haven, CT, USA
Wilson disease (WD) is a rare metabolic disorder of autosomal recessi
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