Prions

Question 1

Prion

Answer 1

• misfolded proteins that aggregate in CNS and cause neurodegeneration
• exists in normal isoforms that may transform to pathogenic

Question 2

Kuru

Answer 2

• discovered in Fore tribe in remote highlands of Papa New Guinea
• transmitted via cannibalism

Question 3

Creutzfeldt-Jakob disease

Answer 3

• rapidly progressive
• sporadic, familial, or iatrogenic
• characterized by myoclonus, behavior changes, dementia
• rarely results from tissue transplants

Question 4

New Variant CJD

Answer 4

• “mad cow”
• associated with uncommon genetic homozygosity: Met-Met at codon 129 of PRNP
• occurs in young adults, presents with psychiatric symptoms

Question 5

Fatal familial insomnia

Answer 5

• inherited with progressive course of insomnia
• autonomic instability with increased sympathetic tone
• signs of motor system degeneration and later spongiform changes

Question 6

Gerstmann-Straussler-Scheinker syndrome

Answer 6

• spongiform encephalopathy
• usually familial
• cerebellar degeneration and dementia