Huntington's Disease Flashcards
1
Q
What is Huntington’s disease?
A
Autosomal dominant, incurable neurodegenerative disorder
2
Q
What are the cardinal features of Huntington’s disease? (4)
A
- Chorea
- Dementia
- Psychiatric problems
- Positive fx
3
Q
What is the 1st phase of symptoms? (3)
A
- Depression
- Incoordination
- Personality changes
4
Q
What is the second phase of symptoms? (3)
A
- Chorea
- Dementia
- Rigidity
5
Q
What is the cause of Huntington’s disease? (3)
A
- CAG trinucleotide repeat in huntingtin gene
- Causing faulty huntingtin protein to build up
- Resulting in loss of GABAergic neurons
6
Q
How would you investigate a pt for Huntington’s disease? (2)
A
- Genetic testing: CAG repeats
- MRI head: atrophy of striatum
7
Q
What structures make up the striatum? (2)
A
- Caudate
- Putamen
8
Q
What does the CAG triplet code for?
A
Glutamine
9
Q
How many CAG repeats do you need for a diagnosis of Huntington’s disease?
A
36 or more CAG triplet repeats
10
Q
How do you manage chorea in HD? (2)
A
- Neuroleptics: risperidone, haloperidol
- Dopamine depleting agent: tetrabenazine
11
Q
How do you manage depression in HD?
A
SSRI: sertraline
12
Q
How do you manage aggression in HD?
A
Antipsychotics: risperidone
