Movement disorders in a family carrying ATP7A variant
Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…Late onset Wilson’s disease with hepatic and neurological manifestations
Objective: To report a patient with clinically diagnosed late-onset Wilson’s disease (WD). Background: WD is an autosomal recessive disorder of copper biliary excretion caused by…A case report of Wilson Disease in a Kyrgyz teenager
Objective: Information on the occurrence of WD in the Kyrgyz Republic is currently missing. However, based on previously received epidemiological data to the territories of…Wislon disease: clinical specificities of the disease course under normal ceruloplasmin in the blood, a clinical case from Kyrgyzstan
Objective: Apparent clinical picture of Wilson's disease with normal blood ceruloplasmin levels in young patients with Wilson's disease. Background: Wilson's disease is a hereditary disease…Acquired (non-Wilsonian) hepatocerebral degeneration: case report
Objective: To present a case of the patient with acquired (non-Wilsonian) hepatocerebral degeneration (AHD). Background: AHD is a clinical syndrome which includes movement and cognitive…Neurological Wilson Disease: Clinical Aspects and Evolution in 10 Cases
Objective: Describe the clinical aspects and evolution in 10 patients with neurological Wilson's disease (NWD). Background: Wilson's disease (WD) is a rare autosomal recessive metabolic…Wilson’s disease in Finland
Objective: To investigate the epidemiology and clinical picture of Wilson’s disease (WD) in Finland Background: There are few robust studies on WD epidemiology and none…Structural imaging changes in hepatic and neurological Wilson disease
Objective: To quantitatively assess cerebral structural changes in Wilson disease (WD) subjects with hepatic and neurological phenotypes. Background: WD is a rare autosomal recessive disorder…Genetic analysis of Wilson’s disease in Taiwan
Objective: Genetic analysis of Taiwanese patients with Wilson’s disease. Background: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. The genetic cause is…Eye Movement Abnormalities Correspond to Pontine Atrophy in Wilson Disease
Objective: This study aims to characterize eye movement (EM) abnormalities in Wilson´s disease (WD) and to assess their relation to clinical severity of WD and…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.