GN 1.5.1 Clinical Correlations Huntington Disease Flashcards
1
Q
What determines the penetrance of the HD?
A
Length of the nucleotide repeat
Short:normal, medium:at risk, large:HD
2
Q
What are the main three classes of abnormalities associated w/ HD?
A
Movement (chorea), Cognitive, Psychiatric (depression/anxiety)
3
Q
What is the term for the increase in repeats from generation to generation?
A
Anticipation
4
Q
Once symptomatic, what is the average life expectancy?
A
15 to 18 years
5
Q
What is the genetic basis of Huntington DZ?
A
Trinucleotide repeat
6
Q
What is the mean age of onset?
A
35 to 44 y/o
7
Q
What is the inheritance pattern of HD?
A
Autosomal Dominant