Huntington's Disease Flashcards

1
Q

Define Huntington’s Disease?

A

Autosomal dominant trinucleotide repeat disease characterised by progressive chorea and dementia, typically commencing in middle age

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2
Q

What is the aetiology of Huntington’s 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
Earlier age of onset with each successive generation

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3
Q

What is the epidemiology of Huntington’s Disease?

A

Average of onset: 30-50 yrs

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4
Q

What are the presenting symptoms of Huntington’s Disease?

A
INSIDIOUS onset in middle-age
Progressive 
Fidgeting 
Clumsiness 
Involuntary, jerky, dyskinetic movements often accompanied by grunting and dysarthria
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5
Q

What are the early cognitive changes in Huntington’s Disease?

A
Lability 
Dysphora (a state of unease or generalised dissatisfaction with life)
Mental inflexibility 
Anxiety 
Develops into dementia
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6
Q

What are the late stages of Huntington’s Disease?

A

Rigid
Akinetic
Bed-bound

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7
Q

What do you ask about in the history for Huntington’s Disease?

A
Drug history (especially cocaine and anti-psychotics)
Family History
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8
Q

What are the signs of Huntington’s Disease?

A
Chorea 
Dysarthria 
Slow voluntary saccades 
Supranuclear gaze restriction 
Parkinsonism
Dystonia 
MMSE shows cognitive and emotional deficits
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9
Q

Why do we do Genetic Analysis for Huntington’s Disease?

A

Diagnostic if there are > 39 CAG repeats in the HD gene

Reduced penetrance leads to an intermediate number of CAG repeats

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10
Q

What imaging do we do for Huntington’s Disease?

A

Brain MRI or CT may show symmetrical atrophy of the striatum and butterfly dilation of the lateral ventricles

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11
Q

Why do we do bloods for Huntington’s Disease?

A

Exclude other pathology

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