Huntingtons disease

Question 1

Define Huntingtons disease

Answer 1

Slow progressive GENETIC (AD) neurodegenerative disease characterised by chorea, incoordination, cognitive decline, personality change and more

Rigid form-in younger adults-might not have chorea
choleric form-more classic

Question 2

Aetiology and risk factors for Huntington’s disease

Answer 2

Autosomal dominant-Trinucleotide repeats causing weird Huntingtin protein-more repeats, earlier syndrome presents and worse it is.
Misfolded protein causes cell death-mainly in striatum

Risk factors:
NOT gender
Typically between 30-50
European descent
Family Hx
number of repeats in your DNA

Question 3

Epidiemology of Huntingtons disease

Answer 3

4-8/100000, or about 1000 new cases a year in the US

possibly higher

Question 4

Signs and symptoms of Huntingtons disease

Answer 4

FHx is the biggest clue

Impaired concentration
Personality change
Chorea-mild-toe and finger jerks. Occasional trunk/face
Implusive acts (like buys, or anger)
4 most common ones

Increasing dropping/clumsy (loss of coordination)
Fine motor loss (finger to nose then Dr’s hand exam)
Saccardic eye movemet

Question 5

Investigations of Huntingtons disease

Answer 5

its a clinical diagnosis-no test is diagnostical
DNA test can help-40 CAG repeats

MRI or CT may show striatum atrophy