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Year 3: Neuro > Huntingtons > Flashcards

Flashcards in Huntingtons Deck (7)
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1
Q

define Huntington’s disease?

A

autosomal dominant trinucleotide repeat disease (CAG) characterised by progressive chorea and dementia, typically commencing in middle age

2
Q

what is the aetiology of Huntingtons disease?

A
  • The huntingtin gene codes for a protein called huntingtin
  • In the huntingtin gene there is a trinucleotide repeat expansion (CAG) that results in toxic gain of function
  • Autosomal DOMINANT
3
Q

how does huntingtons progress with generations?

A

• Earlier age of onset with each successive generation

4
Q

what is the epidemiology of huntingtons?

A

• Average age of onset: 30-50 yrs

5
Q

presenting symptoms of huntingtons?

A
  • INSIDIOUS onset in middle-age
  • Chorea
  • Personality changes
  • Intellectual impairment
  • Dystonia
  • Saccadic eye movements
6
Q

signs of huntingtons disease?

A
  • Chorea
  • Dysarthria
  • Slow voluntary saccades
  • Supranuclear gaze restriction
  • Parkinsonism
  • Dystonia
7
Q

investigations for huntingtons disease?

A

• Genetic Analysis
o Diagnostic if there are > 39 CAG repeats in the HD gene
• Imaging
o Brain MRI or CT may show symmetrical atrophy of the striatum
• Bloods
o To exclude other pathology
o No liver disease