Huntingtons Flashcards
1
Q
Inheritance
A
Autosomal dominant
2
Q
Genetic component
A
CAG trinucleotide repeat expansion
defect in huntingtin gene on chromosome 4
3
Q
Huntington’s causes degeneration of cholinergic and GABAergic neurons in what area of the brain?
A
striatum of the basal ganglia
4
Q
Features typically develop after what age?
A
35y
5
Q
Clinical features of Huntington’s
A
chorea
personality changes (e.g. irritability, apathy, depression) intellectual impairment
dystonia
saccadic eye movements
