Huntington's Disease

Question 1

A rare, progressive, and autosomal dominant brain disease that causes changes in movement, thinking and behavior

Answer 1

huntington’s disease

Question 2

HD diagnosis is made at the onset of the movement disorder, typically with (1) and (2).

Answer 2

1. chorea
2. impaired involuntary movement

Question 3

HD is inherited in a/an () manner

Answer 3

autosomal dominant (with high penetrance)

Question 4

most vulnerable brain area in HD is ()

Answer 4

striatum

Question 5

HTT gene is characterized by 35 or more (); normal indivs only have <26

Answer 5

CAG repeats

Question 6

compared to normal hHtt protein, if HTT gene is mutated, protein will have ()

Answer 6

expanded polyQ region

Question 7

5 main ideas in pathogenesis of HD

Answer 7

1. Proteolysis & Inclusion bodies
2. Transcriptional dysregulation
3. Autophagy dysregulation
4. Mitochondrial dysfunction
5. Excitotoxicity

Question 8

3 main processes in diagnosing HD

Answer 8

1. neurological exam and medical history
2. diagnostic imaging
3. genetic tests

Question 9

the most effective and accurate method of testing for HD (counts the number of CAG repeats in the HD gene)

Answer 9

genetic tests

Question 10

current state of treatment for HD

Answer 10

1. tetrabenazine (address chorea)
2. antipsychotic drugs (may ease chorea, but may increase contraction symptoms of HD)
3. drugs for depression and anxiety

Question 11

many HTT-lowering therapeutics use the () modality

Answer 11

ASO, or antisense DNA oligomer (block translation of mRNA to protein)

Question 12

for current state of HD research, () are of particular interest because they allow researchers to determine if the progression of the disease correlates with changes in brain scan images, or with chemical changes in blood, urine, or cerebrospinal fluid.

Answer 12

biomarkers