Genetics

Question 1

anticipation phenomenon

Answer 1

This is where successive generations have more repeats in the gene, resulting in:
-Earlier age of onset
-Increased severity

Question 2

cause of Huntington’s?

Answer 2

autosomal dominant mutation

Question 3

chance of patient with huntingtons passing it on to their kid?

Answer 3

50% - as it is autsomal dominant

Question 4

psych symptoms of huntingtons?

Answer 4

• Compulsions
  
  • Suicidality
  • Aggression
  • Blunted affect
  • Depression
  • Psychosis
  • Anxiety
  • Depression

Question 5

cognitive symptoms of huntingtons?

Answer 5

-Short and long term memory deficits
-Decline in executive function
-Dementia (progressive decline in global cognition)

Question 6

motor symptoms of huntingtons?

Answer 6

• Choreiform movements (affects basal ganglia)
  
  • Rigidity
  • Writhin movements
  • Gait disturbance
  • Problems chewing/ swallowing/ speaking
  • All actions requiring muscle control become impaired

Question 7

example of a disease that shows anticipation?

Answer 7

Huntingtons

Question 8

when do patients with huntingtons typically start to show symptoms?

Answer 8

30-50 years