Huntington's disease

Question 1

What is Huntington’s disease?

Answer 1

Huntington’s disease is a slowly progressive, neurodegenerative disorder characterised by chorea, incoordination, cognitive decline, personality changes, and psychiatric symptoms, culminating in immobility, mutism, and inanition.

It is autosomal dominant.

Question 2

What are the risk factors for Huntington’s disease?

Answer 2

> CAG expansion on huntingtin gene

> FHx

Question 3

What are the signs and symptoms of Huntington’s disease?

Answer 3

> Impaired performance
> Personality change
> Irritability and impulsivity
> Choreic movements
> Loss of coordination
> Deficit in fine motor coordination
> Slowed rapid eye movements
> Motor impersistence
> Impaired tandem walking

Question 4

What is the epidemiology of Huntington’s disease?

Answer 4

The prevalence of Huntington’s disease in European populations is estimated at 4 to 8 per 100,000.

Question 5

What investigations would you do for Huntington’s disease?

Answer 5

No real tests
Clinical diagnosis

CAG repeat testing
MRI/ CT- caudate or striatal atrophy