Mixed Hyperkinetic/Hypokinetic Movement Disorders (19, Part 3) Flashcards Preview

Neurology > Mixed Hyperkinetic/Hypokinetic Movement Disorders (19, Part 3) > Flashcards

Flashcards in Mixed Hyperkinetic/Hypokinetic Movement Disorders (19, Part 3) Deck (12)
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0
Q

What is the pathological mechanism behind Wilson’s disease?

A

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

1
Q

What is the inheritance pattern of Wilson’s disease? What gene product is mutated?

A

Autosomal recessive
ATP7B, a copper-transporting ATPase is mutated
*(long arm of chromosome 13)

2
Q

What age range is onset of Wilson’s typically seen in?

A

Age 10-20 is most common; have been cases as young as 3 and as old as 70

3
Q

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?

A

~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)

4
Q

What is the most common neurological presenting feature of Wilson’s disease?

A

Tremor - is classically a kinetic, or intention, tremor : only occurs with movement (postural and rest tremors may be present though)

5
Q

What neurological symptom will usually develop eventually in pts with Wilson’s?

A

Dysarthria (may be extrapyramidal or cerebellar in nature)

*other symptoms include Parkinsonism and chorea

6
Q

What are three psychiatric symptoms that may be seen in Wilson’s, esp in those with neurological symptoms?

A
  1. Personality change
  2. Depression/Mania
  3. Psychosis
    - also dementia, but this is pretty rare
7
Q

What characteristic finding of Wilson’s disease is virtually always present in patients if neurological or psychiatric dysfunction is present?

A

Kayser-Fleischer ring

8
Q

Neuronal loss and gliosis are especially prominent in what three parts of the brain in Wilson’s?

A
  1. Putamen
  2. Thalamus
  3. Cortex
9
Q

What is an Opalski cell and where is it found? (Microscopic hallmark of Wilson’s)

A

Altered glial cell found in the basal ganglia of affected individuals

10
Q

What 2 serum findings are seen in Wilson’s?

A
  1. Decreased serum ceruloplasmin
  2. Increased serum free copper (but serum total copper is decreased, mainly due to decreased ceruloplasmin
    * also increased urinary copper
11
Q

What is the most sensitive and accurate finding for Wilson’s?

A

Elevation of hepatic copper levels

*genetic testing is impractical due to the huge number of mutations that can cause Wilson’s