Huntingtons Disease

Question 1

What is the pathology of Huntington’s

Answer 1

A loss of neuron’s in the basal ganglia and cortex of the brain which can lead to cortical thinning, lateral ventricle dilation and a loss of white matter

Question 2

What neurotransmitters are decreased in Huntington’s?

Answer 2

GABA
Acetylcholine
GAD-GABA

Question 3

What are the three main signs of Huntington’s?

Answer 3

Chorea
Dementia
Behavioral changes

Question 4

What is the peak age group for Huntington’s?

Answer 4

35-45y/o

Question 5

Chorea is a sign of what pathway being affected?

Answer 5

Indirect pathway of the basal ganglia

Question 6

What is another sign associated with chorea?

Answer 6

Cicadic eye movements

Question 7

List some symptoms of Huntington’s:

Answer 7

Mood disorders
Unsteady gait
Cognitive thinking disturbance
Rigidity and seizures

Question 8

What is the cause of death in 9% of patients with Huntington’s

Answer 8

Suicide

Question 9

What class of drugs are given for symptomatic management?

Answer 9

Dopamine depleting agents

Dopamine Receptor antagonists

Question 10

What is the significant difference between Huntington’s dementia and Alzheimer’s?

Answer 10

Patients with Huntington’s can still remember places and people even at their advanced stage

Question 11

Where in the brain will show significant degeneration in Huntington’s?

Answer 11

Caudate nucleus

Question 12

How many repeats of glutamine will result in full penetrance?

Answer 12

> 38

Question 13

What chromosome is the gene for Huntington’s located on?

Answer 13

Chromosome 4

Question 14

What is the trinucleotide that repeats in Huntington’s?

Answer 14

CAG

Question 15

What medication is used first line in the treatment of Huntington’s chorea

Answer 15

Tetrabenazine

Question 16

When might tetrabenazine be contraindicated?

Answer 16

In patients with underlying psychiatric conditions

Question 17

What medication can be used second line therapy for Huntington’s chorea?

Answer 17

Sulpiride

Question 18

What other medications can be added on to the treatment regime in Huntington’s as third line options

Answer 18

Anti-psychotics

both typical and atypicals

Question 19

Why should you reduce the dose of tetrabenazine in alter stages of disease?

Answer 19

As the disease progresses the chorea tends to reduce and the patient begins to suffer more from bradykinesia.
Tetrabenazine is specifically for chorea so will be of little benefit later in the disease.

Question 20

In Huntington’s where is cortical atrophy most common?

Answer 20

Frontal lobe