Creutzfeldt-Jakob disease

Question 1

What is CJD?

Answer 1

rapidly progressive neurological condition caused by prion proteins

Question 2

What do the prion proteins cause in CJD?

Answer 2

• induce the formation of amyloid folds
  => tightly packed beta-pleated sheets resistant to proteases

Question 3

Clinical features of CJD

Answer 3

dementia (rapid onset)
myoclonus

Question 4

CSF findings in CJD

Answer 4

CSF is usually normal

Question 5

EEG findings in CJD

Answer 5

biphasic, high amplitude sharp waves (only in sporadic CJD)

Question 6

MRI findings in CJD

Answer 6

hyperintense signals in the basal ganglia and thalamus

Question 7

What percentage of CJD is familial vs sporadic?

Answer 7

Sporadic = 85% of cases
Familial = 10-15%

Question 8

Mean age of onset of CJD

Answer 8

65 years

Question 9

Who is affected by new variant CJD

Answer 9

young patients (average age 25 years)

Question 10

Clinical features of new variant CJD

Answer 10

anxiety
withdrawal
dysphonia

Question 11

Genetics implicated in new variant CJD

Answer 11

‘prion protein’ is coded on chromosome 20

methionine homozygote at codon 129 of the prion protein

= risk factor for developing CJD

Question 12

Prognosis of new variant CJD

Answer 12

Median survival 13 months

Question 13

Give examples of other prion diseases

Answer 13

kuru
fatal familial insomnia
Gerstmann Straussler-Scheinker disease