Huntington's disease

Question 1

What is Huntington’s disease?

Answer 1

Huntington’s disease is an inherited neurodegenerative condition. It is a progressive and incurable condition that typically results in death 20 years after the initial symptoms develop.

Question 2

What are the genetics of Huntington’s?

Answer 2

autosomal dominant

trinucleotide repeat disorder: repeat expansion of CAG in HTT gene

Question 3

What are the brain changes in Huntington’s disease?

Answer 3

Results in degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia

Question 4

What are the features of Huntington’s disease?

Answer 4

1) chorea
2) personality changes
3) dystonia
4) saccadic (rapid) eye movements

Question 5

What is chorea?

Answer 5

Rapid jerky body movements

Question 6

What is dystonia?

Answer 6

Abnormal sustained muscle contractions leading to abnormal postures

Question 7

How is Huntington’s disease diagnosed?

Answer 7

confirmed through a genetic test, to check the presence of the abnormally expanded HTT gene