Psychiatric aspects of Wilson disease: a review

Zimbrean, Paula C.; Schilsky, Michael L.

doi:10.1016/j.genhosppsych.2013.08.007

Cited by 161 publications

(124 citation statements)

References 100 publications

Supporting

Mentioning

118

Contrasting

Unclassified

Order By: Relevance

“…32 They tend to present later than hepatic manifestations, in childhood but frequently in the third decade of life. 33 They can be extremely subtle or may develop rapidly with complete disability apparent within a few months. Neurological manifestations can be classified as: (1) a dystonic syndrome, 34 (2) akinetic-rigid syndrome akin to Parkinson's disease, (3) pseudosclerosis dominated by tremor, and (4) ataxia.…”

Section: Neurologicalmentioning

confidence: 99%

Insights into the management of Wilson’s disease

Kathawala

Hirschfield

2017

Therap Adv Gastroenterol

View full text Add to dashboard Cite

Abstract:Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations. Diagnosis requires a high index of suspicion and is based on a combination of clinical signs, biochemical tests, hepatic copper content assay and mutation analysis of the ATP7B gene; to date, there are more than 500 mutations of ATP7B in patients with Wilson's disease. Early recognition and treatment can result in an excellent prognosis whereas untreated disease is almost always fatal. Drug therapies include chelating agents, such as penicillamine or trientine, and zinc salts. Liver transplantation is curative correcting the underlying pathophysiology and is traditionally indicated in acute liver failure or end-stage liver disease refractory to medical therapy. This review provides an overview of various aspects of Wilson's disease including molecular basis of the disease, clinical features, diagnostic and management strategies with their current limitations.

show abstract

Section: Neurologicalmentioning

confidence: 99%

Insights into the management of Wilson’s disease

Kathawala

Hirschfield

2017

Therap Adv Gastroenterol

View full text Add to dashboard Cite

show abstract

“…Behavioral and psychiatric manifestations of WD include depression, altered behavior and personality, impulsiveness and labile mood, sexual exhibitionism, and frank psychosis. 7 When neurologic or psychiatric manifestations precede clinical liver disease, the diagnosis of WD is often delayed by 1 to 2 years.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Wilson disease: Clinical manifestations, diagnosis, and treatment

Schilsky

2014

Clinical Liver Disease

Self Cite

View full text Add to dashboard Cite

“…Small fiber peripheral neuro pathy involving the corneal nerve plexus [40] , as well as neuronal degeneration involving the retina have also been described [41] , using novel techniques such as corneal confocal microscopy and spectral domain optical coherence tomography, respectively. Psychiatric abnormalities, which may be present before hepatic or neurological signs in up to one third of patients [42] , include decreased academic performance or personality changes, sexual exhibitionism, impulsiveness, labile mood, inappropriate behavior, depression, paranoia, and schizophrenia, leading also to suicide in a discrete number of cases [15,33,43,44] . Other manifestations of disease may include renal abnormalities such as hypercalciuria, nephrocalcinosis, nephrolithiasis, and aminoaciduria, cardiomyopathy with arrhythmias, autonomous nervous alterations, gigantism, hyoparathyroidism, osteoarthritis, pathological fractures and pancreatitis [42,45] .…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Wilson’s disease: A review of what we have learned

Rodríguez–Castro

Hevia‐Urrutia

Sturniolo

2015

WJH

140

123

View full text Add to dashboard Cite

Wilson's disease (WD), which results from the defective ATP7B protein product, is characterized by impaired copper metabolism and its clinical consequences vary from an asymptomatic state to fulminant hepatic failure, chronic liver disease with or without cirrhosis, neurological, and psychiatric manifestations. A high grade of suspicion is warranted to not miss cases of WD, especially less florid cases with only mild elevation of transaminases, or isolated neuropsychiatric involvement. Screening in first and second relatives of index cases is mandatory, and treatment must commence upon establishment of diagnosis. Treatment strategies include chelators such as D-penicillamine and trientine, while zinc salts act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. As an orphan disease, research is lacking in this field, especially regarding therapeutic strategies which are associated with better patient compliance and which could eventually also reverse established injury.

show abstract

Psychiatric aspects of Wilson disease: a review

Cited by 161 publications

References 100 publications

Insights into the management of Wilson’s disease

Insights into the management of Wilson’s disease

Wilson disease: Clinical manifestations, diagnosis, and treatment

Wilson’s disease: A review of what we have learned

Contact Info

Product

Resources

About