Wilson's disease and other neurological copper disorders.
By O. Bandmann, K. Weiss, S. Kaler. Lancet Neurology, 2015
838 citations recorded by the source corpus.
Summary The classic copper metabolism disorder, Wilson disease (WD), was first defined in 1912. Both early onset presentations in infancy and late onset manifestations in adults > 70 years are now well recognized. Modern biochemical and genetic prevalence studies suggest that WD may be considerably more common than previously appreciated. Early diagnosis of WD is crucial to ensure that patients can be started on adequate treatment but uncertainty remains about the best possible choice of medication. Direct genetic testing for ATP7B mutations is increasingly available to confirm the clinical diagnosis of WD. WD needs to be differentiated from other conditions that present clinically with hepatolenticular degeneration or share biochemical abnormalities with WD, such as reduced serum cerulo plasmin levels. Disordered copper metabolism is also implied in an increasing number of other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations, and the common late-onset neurodegenerative disorders Alzheimer’s disease and Parkinson’s disease.
Subfields: Health, Toxicology and Mutagenesis, Hematology, Nutrition and Dietetics
View Paper: https://www.semanticscholar.org/paper/d7f31c166ab68e7338fa4707fb47d2799c283e25
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Citations in the corpus
- Copper homeostasis and cuproptosis in health and disease (2022, background): “The choice of treatment generally depends on the disease stage, with Cu chelators recommended for patients with advanced symptomatology.(84,87) Weiss et al.”
- Copper induces cell death by targeting lipoylated TCA cycle proteins (2022, background): “Genetic variation in copper homeostasis results in life-threatening disease (39, 40), and both copper ionophores (11, 17, 41, 42) and copper chelators (43–46) have been suggested as anticancer agents.”
- A Review on a Deep Learning Perspective in Brain Cancer Classification (2019, neutral): “(a) Normal Brain [AtheroPointTM]; (b) Multiple Sclerosis [113]; (c) Stroke [114]; (d) Leukoaraiosis [115]; (e) Alzheimer’s Disease [116]; (f) Parkinson’s Disease [117]; (g) Wilson’ Disease [118]; ( ) Brain Tumor [119].”