Huntington's Disease

Question 1

What is this describing?
Incurable, progressive, neurodegenerative disease presenting in middle age, prodromal phase of mild: irritability, depression, incoordination.

Answer 1

Huntington’s disease

Question 2

How is Huntington’s disease inherited?

Answer 2

Autosomal dominant

Question 3

What symptoms show up in later stage Huntington’s disease?

Answer 3

Chorea, dementia, fits, and death (within 15 years of diagnosis)

Question 4

What is the pathophysiology of Huntington’s disease?

Answer 4

1. Atrophy and neuronal loss of striatum and cortex.

2. Due to expansion of CAG repeat on chromosome 4.