Huntington's

Question 1

Huntington’s genetics

Answer 1

Autosomal dominant. Changes in gene encoding huntingtin- abnormal glutamine repeats lead to gain of function

Question 2

Huntington’s pathogenesis

Answer 2

Major degeneration of striatum neurones and cortical atrophy. Medium spiny neurones lost.

Question 3

Huntington’s signs and symptoms

Answer 3

Choreic movement. Gait abnormalities. Lack of coordination. Cognitive and psychiatric disturbance