Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.

2nd Department of Neurology Institute of Psychiatry and Neurology 02 957 Warsaw Poland

Brain and Mind Centre and School of Medical Sciences The University of Sydney Sydney NSW 2006 Australia

Department of Clinical Sciences of Companion Animals Faculty of Veterinary Medicine Utrecht University 3584 CM Utrecht The Netherlands

Department of Internal Medicine Division of Gastroenterology and Hepatology University of California Davis Sacramento CA 59817 USA

Department of Medicine Johns Hopkins University School of Medicine Baltimore MD 1800 USA

Department of Neurology and Centre of Clinical Neuroscience 1st Faculty of Medicine Charles University and General University Hospital 128 08 Prague Czech Republic

Department of Physiology Johns Hopkins University School of Medicine Baltimore MD 1800 USA

Department of Radiology Charles University and General University Hospital 128 08 Prague Czech Republic

Digestive Medicine Department Ciberehd and IISLaFe Hospital U i P La Fe University of Valencia 46010 Valenci Spain

Dutch Society for Liver Disease Patients 3828 NS Hoogland The Netherlands

German Society for Wilson disease Patients Zehlendorfer Damm 119 D 14532 Kleinnachnow Germany

Institute of Molecular Pathobiochemistry Experimental Gene Therapy and Clinical Chemistry RWTH Aachen University Hospital Aachen D 52074 Aachen Germany

Private Practice for Internal Medicine Beethovenstraße 2 D 76530 Baden Baden Germany

Rare Neurodegenerative Diseases Lab Centro de Investigacion Principe Felipe 46012 Valencia Spain

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