Wilson disease

A Członkowska, T Litwin, P Dusek, P Ferenci… - Nature reviews Disease …, 2018 - nature.com
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that
is characterized by the pathological accumulation of copper. WD is caused by mutations in …

Wilson's disease and other neurological copper disorders

O Bandmann, KH Weiss, SG Kaler - The Lancet Neurology, 2015 - thelancet.com
The copper metabolism disorder Wilson's disease was first defined in 1912. Wilson's
disease can present with hepatic and neurological deficits, including dystonia and …

A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 practice guidance on Wilson disease from the …

ML Schilsky, EA Roberts, JM Bronstein, A Dhawan… - Hepatology, 2023 - journals.lww.com
Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

Wilson disease: an overview and approach to management

C Mulligan, JM Bronstein - Neurologic clinics, 2020 - neurologic.theclinics.com
Wilson disease is one of the few movement disorders in which there are therapies that
modify disease progression. This disease is caused by copper overload primarily in the liver …

[PDF][PDF] Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease

P Ferenci, W Stremmel, A Członkowska, F Szalay… - …, 2019 - Wiley Online Library
Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with
considerable variation in clinical presentations, the most common ones being liver disease …

Psychiatric aspects of Wilson disease: a review

PC Zimbrean, ML Schilsky - General hospital psychiatry, 2014 - Elsevier
Objective To review the current evidence about psychiatric symptoms in Wilson's disease
(WD). Method We searched Ovid, PsychInfo, CINHAL and PubMed databases from May …

Copper signaling in the mammalian nervous system: synaptic effects

ED Gaier, BA Eipper, RE Mains - Journal of neuroscience …, 2013 - Wiley Online Library
Copper is an essential metal present at high levels in the CNS. Its role as a cofactor in
mitochondrial ATP production and in essential cuproenzymes is well defined. Menkes and …

Psychiatric manifestations in Wilson's disease: possibilities and difficulties for treatment

T Litwin, P Dusek, T Szafrański… - Therapeutic …, 2018 - journals.sagepub.com
Wilson's disease (WD) is an inherited metabolic disorder related to disturbances of copper
metabolism, and predominantly presents with liver and neuropsychiatric symptoms. In most …

Copper imbalance in Alzheimer's disease: Convergence of the chemistry and the clinic

KP Kepp, R Squitti - Coordination Chemistry Reviews, 2019 - Elsevier
In this perspective we list the many clinical, histopathological, genetic and chemical
observations relating copper to Alzheimer's disease (AD). We summarize how the …

Management perspective of Wilson's disease: early diagnosis and individualized therapy

XZ Yuan, RM Yang, XP Wang - Current Neuropharmacology, 2021 - ingentaconnect.com
Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is
characterized by the pathological accumulation of copper in the liver and brain. Common …