Huntington's Flashcards
(7 cards)
1
Q
What is chorea?
A
Involuntary jerking/twitching movements
2
Q
What part of the brain does Huntingtons affect?
A
The basal ganglia (striatum) and cortex
3
Q
What are some early symptoms?
A
mild chorea, memory/learning problems, irritability
4
Q
Where do mutations occur?
A
The HTT gene on the 4th chromosome
5
Q
Why is the Huntington protein critical?
A
It is essential for normal development before birth
6
Q
What does the Huntington protein do in neurons
A
Anchors vesicles and microtubules
7
Q
Which part of the Huntington’s protein mutates?
A
On the HTT gene, on the CAG segment