Huntingtons disease - Clinical

Question 1

What is the inheritance for Huntingtons disease?

Answer 1

Autosomal dominant inheritance

Question 2

How is huntingtons characterised?

Answer 2

Movement disorder & Dementia

Question 3

What is the clinical onset for HD?

Answer 3

10% Juvenile - 4-19 years
65% early and mid life - 20-49 years
25% late onset

Question 4

What are the neurological features of HD?

Answer 4

Chorea
Parkinsonism in Juvenile onset (rigidity and akinesia)
Oculomotor impersistance (inability to maintain fixation)

Question 5

What are the psychiatric symptoms of HD?

Answer 5

Change in personality
Schizophreniform and depressive psychoses
Progressive dementia

Question 6

What is the prognosis for HD?

Answer 6

Most patients die 10-20 years after onset of disease

Question 7

What is the relationship between the length of the CAG repeat sequence and age of onset?

Answer 7

Inverse correlation
Bigger the expansion the earlier the onset

Question 8

What subset of patients have the fastest progression of HD?

Answer 8

Male Patients with affected fathers

Question 9

What are the key pathological hallmarks of HD?

Answer 9

Atrophy of the Caudate and Atrophy of the Putamen
Loss of volume of cerebral cortex
Neuronal loss and astrocytosis

Question 10

What are the pharmacological managements for HD?

Answer 10

Tetrabenazine, sulpride for chorea (Dopamine blockers)
Antidepressants and mood stabalisers for psychiatric features

Question 11

What other management techniques are used in managing HD?

Answer 11

Multidisciplinary team involvement
Genetic testing and counselling
Diseases modification and transplantation