Huntingtons Flashcards
1
Q
What is Huntingtons?
A
Auto dom with full penetrance (all genotypes will express phenotypes)
Lack of GABA + excessive nigrostriatal pathway
2
Q
Pathology>?
A
CAG repeats on chromosome 4 affecting HTT gene
Trinucleotide expansion repeats
3
Q
How many repeats mean you have Huntingtons?
A
<35 = no huntingtons
35-55 = huntingtons
60+ = severe huntingtons
4
Q
Sx of Huntington’s?
A
Chorea (excessive limb jerking)
Dementia
Psychiatric issues
depression!
5
Q
Dx of huntingtons?
A
Clinical; fHx of earlier + more severe Huntingtons
Genetic test if necessary (>35 CAG repeats)
6
Q
Tx ?
A
Extensive counselling
DA antagonists for chorea (tetrabenazine)
7
Q
The more trinucleotide repeats mean?
A
The earlier and more severe Sx present
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