Microbiology 4s- prion disease

Question 1

what type of encephalopathy does prion disease cause?

Answer 1

spongiform encephalopathy

Question 2

prion protein gene on which chromosome

Answer 2

chr20

Question 3

polymorphisms on which codon?

Answer 3

codon 129

Question 4

what is PRP Sc resistant to?

Answer 4

proteases and radiation

Question 5

most common type of prion disease

Answer 5

sporadic CJD

Question 6

what does variant CJD arise from?

Answer 6

BSE

Question 7

what is vCDJ associated with?

Answer 7

100% codon 129 polymorphism

Question 8

what sign is seen on MRI in vCJD?

Answer 8

Pulvinar sign

Question 9

age of onset in CJD vs vCJD?

Answer 9

vCJD earlier onset, longer survival (12 months vs 6), vCJD more psychiatric symptom onset whereas spontaneous cJD more dementia

Question 10

example of genetic Prion disease

Answer 10

familial fatal insomnia (AD)

Question 11

what is the only way of confirming sporadic CJD

Answer 11

Brain biopsy but this is only really done at autopsy

Question 12

histopathology in sporadic cJD

Answer 12

Spongiform vacuolation and amyloid plaques

Question 13

14-3-3 protein marker of what? what finding in sporadic CJD and vCJD?

Answer 13

MARKER of rapid neurodegeneration (CSF)
sporadic CJD protein+ve
vCJD protein normal

Question 14

best diagnostic investigation for vCJD?

Answer 14

Tonsillar biopsy! (if +Ve negates need for brain biopsy)

Question 15

symptomatic management of CJD

Answer 15

Clonazepam for myoclonus