Flashcards in Mixed Hyperkinetic/Hypokinetic Movement Disorders (19, Part 3) Deck (12)
What is the inheritance pattern of Wilson's disease? What gene product is mutated?
ATP7B, a copper-transporting ATPase is mutated
*(long arm of chromosome 13)
What is the pathological mechanism behind Wilson's disease?
Inability to excrete copper in the biliary system due to mutated ATP7B leads to accumulation of Cu 1st in the liver, then eventually in the brain
What age range is onset of Wilson's typically seen in?
Age 10-20 is most common; have been cases as young as 3 and as old as 70
Although hepatic symptoms are seen most commonly, what % of patients have neurological symptoms as the initial presenting feature? What is different about age of onset in those presenting with neurological symptoms as first symptoms?
~40% of patients
*patients presenting with neurological symptoms typically have a later age of onset usually closer to 20 (the liver has to fill up before Cu can spill over andk begin depositing in the brain)
What is the most common neurological presenting feature of Wilson's disease?
Tremor - is classically a kinetic, or intention, tremor : only occurs with movement (postural and rest tremors may be present though)
What neurological symptom will usually develop eventually in pts with Wilson's?
Dysarthria (may be extrapyramidal or cerebellar in nature)
(*other symptoms include Parkinsonism and chorea)
What are three psychiatric symptoms that may be seen in Wilson's, esp in those with neurological symptoms?
1. Personality change
- also dementia, but this is pretty rare
What characteristic finding of Wilson's disease is virtually always present in patients if neurological or psychiatric dysfunction is present?
Neuronal loss and gliosis are especially prominent in what three parts of the brain in Wilson's?
What is an Opalski cell and where is it found? (Microscopic hallmark of Wilson's)
Altered glial cell found in the basal ganglia of affected individuals
What 2 serum findings are seen in Wilson's?
1. Decreased serum ceruloplasmin
2. Increased serum free copper (but serum total copper is decreased, mainly due to decreased ceruloplasmin
*also increased urinary copper