GiM: Huntington's Disease

Question 1

What is Huntington’s disease? (in terms of neuro, mood, and movement)

Answer 1

Progressive Neurodegenerative disorder. 
Movement disorder (chorea- involuntary movements, dystonia, bradykinesia, swallowing/choking, dysarthria)
Mood disorder (depression, euphoria, anxiety, aggression) Memory loss, dementia.
Mean age of onset= 35-44 years.

Question 2

Genetics of Huntington’s?

Answer 2

Complete penetrance.
HTT gene at 4q16.3
The HD mutation= an expansion of CAG repeats >40 repeats.

Question 3

What is Anticipation?

Answer 3

The onset of a disorder occurs at an earlier age as it is passed from one generation to the next. (increased severity of symptoms)
It is often associated with triplet repeat disorders (or trinucleotide repeat disorders)