Huntingtons disease

Question 1

is a…

Answer 1

Hyperkinetic disorder

Question 2

symptoms include

Answer 2

• excessive choreiform movement
• uncontrollable, relatively rapid motor patterns
• disrupts normal motor activity
• later stages- psychiatric disturbance
• dementia

Question 3

genetics

Answer 3

• autosomal dominant 4p16
• expanded CAG repeats in H gene
  1/ 15000
  peak onset 45 yrs

Question 4

primary pathology

Answer 4

loss of the striatal output neutrons in the indirect pathway (usually suppress movement by enhancing BG activity)

• suppression of the STN (usually inhibits thalamus)
• predominance of the direct pathway
• overactive thalamocortical pathway