Huntington's disease

Question 1

What is the inheritance of huntington’s like?

Answer 1

autosomal dominant inheritance

Question 2

What gene is mutated in Huntington’s?

Answer 2

huntingtin gene (HTT) 4p16.3

Question 3

What does this mutation lead to?

Answer 3

expansion of CAG trinucleotide

Question 4

How is the brain affected in Huntington’s?

Answer 4

atrophy of the striatum (caudate and putamen)

Question 5

What test and how many repeats are you looking for in Huntington’s

Answer 5

CAG sequence repeated so large glutamine blocks (more than 40 develop and less than 28 normal) – more CAG repeats, earlier onset of illness so often earlier death) – CAG Repeat testing !!!

Question 6

What happens to the neurons in huntington’s?

Answer 6

degeneration and death of medium spiny GABAergic neurons in caudate and putamen

Question 7

What does MRI show in huntington’s?

Answer 7

striatal atrophy and global atrophy

Question 8

What does the normal huntington protein do?

Answer 8

thought to stabilize neurons, preventing apoptosis from occurring and prolonging cell life

Question 9

What are the motor changes in huntington’s?

Answer 9

1. chorea
2. athetosis
3. dysphagia
4. ataxia

Question 10

What is chorea?

Answer 10

movement disorder that causes involuntary, irregular, unpredictable muscle movements

Question 11

What is athetosis?

Answer 11

slow, involuntary, and writhing movements of the limbs, face, neck, tongue, and other muscle groups

Question 12

What is ataxia?

Answer 12

means without coordination. People with ataxia lose muscle control in their arms and legs

Question 13

What are the cognitive changes in Huntington’s?

Answer 13

1. Depression
2. Personality changes
3. Lack of concentration
4. Dementia