A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment
Louis C. Penning,
Marina Berenguer,
Anna Czlonkowska,
Kay L. Double,
Petr Dusek,
Carmen Espinós,
Svetlana Lutsenko,
Valentina Medici,
Wiebke Papenthin,
Wolfgang Stremmel,
Jose Willemse,
Ralf Weiskirchen
Affiliations
Louis C. Penning
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, 3584 CM Utrecht, The Netherlands
Marina Berenguer
Digestive Medicine Department, Ciberehd & IISLaFe, Hospital U. i P. La Fe, University of Valencia, 46010 Valenci, Spain
Anna Czlonkowska
Second Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland
Kay L. Double
Brain and Mind Centre and School of Medical Sciences (Neuroscience), The University of Sydney, Sydney, NSW 2006, Australia
Petr Dusek
Department of Radiology, Charles University and General University Hospital, 128 08 Prague, Czech Republic
Carmen Espinós
Rare Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe, 46012 Valencia, Spain
Svetlana Lutsenko
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 1800, USA
Valentina Medici
Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of California Davis, Sacramento, CA 59817, USA
Wiebke Papenthin
German Society for Wilson disease Patients (Morbus Wilson e.V.), Zehlendorfer Damm 119, D-14532 Kleinnachnow, Germany
Wolfgang Stremmel
Private Practice for Internal Medicine, Beethovenstraße 2, D-76530 Baden-Baden, Germany
Jose Willemse
Dutch Society for Liver Disease Patients (Nederlandse Leverpatienten Vereniging), 3828 NS Hoogland, The Netherlands
Ralf Weiskirchen
Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH Aachen University Hospital Aachen, D-52074 Aachen, Germany
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.
