Microbiology 9 - Prion disease Flashcards

1
Q

Describe some possible symptoms of prion disease

A
Ataxia
UMN weaknesses
Nystagmus 
Limb spasticity 
Hyperreflexia
Paraesthesia 
Tremor
(all neuro symptoms!)
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2
Q

What marker of Creutzfeld Jacob Disease may be identified in CSF?

A

14-3-3

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3
Q

What is the recognised abnormailty on MRI that is indicative of CJD?

A

Increased signal in right parietal lobe

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4
Q

What does ‘prion’ stand for?

A

PRotein-only InfectiOus ageNt.

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5
Q

What is the general pathophysiology of prion diseases?

A

Rapid neurodegeneration via spongiform vacuolation

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6
Q

Upon which chromosome is prion encoded?

A

C20

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7
Q

Describe the structure and function of healthy prion

A

Alpha helical structure - involved in copper binding

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8
Q

What is the structure of pathological prion?

A

Beta pleated sheet

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9
Q

What is the name given to sporadic prion disease?

A

Creutzfeld Jacob Disease

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10
Q

What are the 2 types of acquired prion disease currently known about?

A
  1. Variant/ iatrogenic CJD (included mad cow BSE)

2. Kuru (Papau New Guinea)

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11
Q

Recall 3 genetic causes of prion disease

A
  1. PRNP mutations
  2. Gertsmann-Strausser-Sheinker syndrome
  3. Familial fatal insomnia
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12
Q

How does CJD present?

A

RAPID DEMENTIA with:

  • myoclonus
  • cortical blindness
  • akinetic mutism
  • LMN signs
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13
Q

What is the mean age of onset of CJD?

A

65

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14
Q

How quickly does CJD cause death?

A

Within 6/12

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15
Q

What is the mean age of presentation of variant CJD/ BSE?

A

26

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16
Q

What is the mean survival time in variant CJD?

A

14 months

17
Q

Recall the typical presentation of variant CJD/ BSE

A
Dysphonia
Hallucinations
Anxiety
Paranoia
(Psychological symptoms mostly)
18
Q

What would an MRI show in variant CJD/ BSE?

A

Positive pulvinar sign

19
Q

What test is 100% sensitive and specific for variant CJD/ BSE, but useless in sporadic CJD?

A

Tonsilar biopsy

20
Q

What is the inheritance pattern of prion proteins?

A

All autosomal dominant

21
Q

What are the symptoms of Gertsmann-Strausser-Scheinher syndrome?

A

Progressive ataxia