Wilson disease
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 …
is characterized by the pathological accumulation of copper. WD is caused by mutations in …
Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment
H Kodama, C Fujisawa… - Current drug …, 2012 - ingentaconnect.com
Copper is an essential trace element required by all living organisms. Excess amounts of
copper, however, results in cellular damage. Disruptions to normal copper homeostasis are …
copper, however, results in cellular damage. Disruptions to normal copper homeostasis are …
Wilson disease: neurologic features
A Członkowska, T Litwin, G Chabik - Handbook of clinical neurology, 2017 - Elsevier
Wilson disease (WD) is a neurodegenerative disorder, which presents as a spectrum of
neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea …
neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea …
Wilson's disease
RF Pfeiffer - Handbook of clinical neurology, 2011 - Elsevier
In the almost 100 years since Wilson's description of the illness that now bears his name,
tremendous advances have been made in our understanding of this disorder. The genetic …
tremendous advances have been made in our understanding of this disorder. The genetic …
Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates
BACKGROUND: Seizures are uncommon in Wilson's disease. OBJECTIVE: To analyze
profile of seizures in WD and to correlate with EEG and MR imaging observations …
profile of seizures in WD and to correlate with EEG and MR imaging observations …
Pathology, clinical features and treatments of congenital copper metabolic disorders–focus on neurologic aspects
H Kodama, C Fujisawa, W Bhadhprasit - Brain and Development, 2011 - Elsevier
Genetic disorders of copper metabolism, including Menkes kinky hair disease (MD), occipital
horn syndrome (OHS) and Wilson's disease (WD) are reviewed with a focus on the …
horn syndrome (OHS) and Wilson's disease (WD) are reviewed with a focus on the …
Non-convulsive status epilepticus in the presence of catatonia: a clinically focused review
DC Volle, KG Marder, A McKeon, JO Brooks… - General hospital …, 2021 - Elsevier
Introduction Catatonia is classically associated with psychiatric conditions but may occur in
medical and neurologic disorders. Status epilepticus (SE) is a seizure lasting more than five …
medical and neurologic disorders. Status epilepticus (SE) is a seizure lasting more than five …
Neurological manifestations in Wilson's disease–possible treatment options for symptoms
Introduction: Wilson's disease (WD) is a neurodegenerative disorder that presents mainly
with liver symptoms, but may be accompanied by various neurological manifestations. WD …
with liver symptoms, but may be accompanied by various neurological manifestations. WD …
[HTML][HTML] Rare initial presentation of Wilson's disease as acute encephalopathy with recurrent seizure
V Leelamani, J George - Oman Medical Journal, 2023 - ncbi.nlm.nih.gov
Basal ganglia-based movement abnormalities are the hallmark of the neuropsychiatric
presentation of Wilson's disease. Seizures are rarely reported in Wilson's disease …
presentation of Wilson's disease. Seizures are rarely reported in Wilson's disease …
External capsular hyperintensities in Wilson's disease presenting with refractory status epilepticus
T Ruchika, M Madhukar, GK Abhishek - Neurology India, 2022 - journals.lww.com
Wilson's disease is a genetic disorder characterized by abnormal accumulation of copper in
the brain, liver, eye, and kidney. Various neuropsychiatric manifestations such as dystonia …
the brain, liver, eye, and kidney. Various neuropsychiatric manifestations such as dystonia …