Huntingtons

Question 1

Definition

Answer 1

Neurodegenerative disorder that affects the CNS (basal ganglia and other substructures).

Causes Hyperkinetic movement (more movement)

Question 2

CNS or PNS

Answer 2

CNS disorder (basal ganglia and other substructures)

Question 3

Females vs males

Answer 3

equal

Question 4

Age of diagnoses

Answer 4

Younger adulthood 30-50 yrs

Question 5

Course of disease

Answer 5

10-20 years

Question 6

Aetiology (cause)

Answer 6

genetic (inherited)

Question 7

Pathophysiology (basic cause of impairments)

Answer 7

Death of neurons in the striatum (caudate nucleus and putamen) cause atrophy of the striatum to 1/2 - 1/3 of normal size

• > glutamate toxicity (too much)
• > dysfunctional indirect pathway of movement

Question 8

Management

Answer 8

Medical management of impairments

no cure

Question 9

Diagnosis

Answer 9

Genetic testing
Radiological imaging - striatum size decrease
Clinical assessment - cognitive and motor impairments

Question 10

What impairment is affected initially?

Answer 10

Cognitive

Question 11

Problems

Answer 11

Cognitive
Motor
- chorea
- abnormal muscle tone
- later stages: rigidity and bradykinesia

Question 12

Pathophysiology that causes hyperkinesia (deeper understanding)

Answer 12

1. atrophy of striatum
2. Striatum cannot inhibit the GPe
3. GPe keeps inhibiting the subthalamic nucleus
4. subthalamic nucleus cannot inhibit the GPi
5. GPi cannot inhibit the thalamus
6. Thalamus overexcites the cortex (cant be controlled) and causes involuntary movement (hyperkinetic)