Huntington's Chorea

Question 1

What type of mutation is Huntington’s chorea?

Answer 1

Autosomal dominant

Question 2

What gene and chromosome is involved in Huntington’s chorea?

Answer 2

HTT

Chromosome 4

Question 3

Huntington’s chorea displays genetic ___ where successive generations have more ___ in the gene

Answer 3

Anticipation

Repeats

Question 4

What are the 2 main features of gene anticipation?

Answer 4

Earlier age of onset in successive generations

Increased severity of the disease in successive generations

I.e Dad will have mild disease at 30, son will have moderate disease at 20

Question 5

3 groups of symptoms in early Huntington’s?

Answer 5

Cognitive

Psychiatric

Mood problems

Question 6

4 motor symptoms of Huntington’s?

Answer 6

Chorea (involuntary abnormal movements)

Eye movement disorders

Speech difficulty (dysarthria)

Dysphagia (swallowing difficulty)

Question 7

What is the main 2 causes of death in patients with Huntington’s?

Answer 7

Pneumonia or other respiratory diseases

Suicide