Advances in Wilson's Disease and Other Neurodegenerations with Brain Metal Accumulations

Dear Colleagues, 

Wilson’s disease (WD) is an inherited disorders of copper metabolism with pathological copper accumulation in different tissues with secondary damage to affected organs (mainly liver and brain). The disease is potentially treatable if early diagnosis and correct treatment are given. The current WD diagnosis is based mainly on clinical symptoms, copper metabolism, and genetical analysis. The WD treatment is based on drugs leading to negative copper body balance (chelators or zinc salts), which were discovered in the 50s and 70s of XX century. In recent years, the progress in WD diagnosis and treatment has been observed. Next-generation sequencing improved the genetic analyses, and direct measurement of ATP7B peptides was proposed as a method to identify patients with WD. Studies with PET with copper-64 visualized disturbances copper metabolism in WD patients compared to healthy controls. The new biomarkers as well as clinical and neuroradiological scales for WD were established. Finally, the new treatment modalities including gene therapy were proposed. Furthermore, WD, particularly the neurological form, often needs to be distinguished from other disorders characterized by brain metals accumulation, such as neurodegenerations with brain iron accumulation (NBIA); manganese transporter deficiency (or manganism due to manganeses overexposure) as well as primary familial brain calcifications (or secondary brain calcifications). Also, in these group of disorders, progress in diagnosis as well as in treatment perspectives is observed. The purpose of this Special Issue is to present the new techniques in WD and other disorders with brain metal accumulation diagnosis, treatment, and monitoring possibilities including original studies, case reports (difficult cases) and more current reviews for physicians involved in WD as well as in other brain metal accumulation disorders’ treatment.

Dr. Tomasz Litwin
Guest Editor

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